Canonical Allele Identifier: CA355655576
Gene: DLG1 HGNC NCBI

Linked Data

dbSNP Id: rs1248730462
gnomAD v2: 3-196812626-C-T
gnomAD v4: 3-197085755-C-T
MyVariant Identifiers: chr3:g.196812626C>T (hg19) chr3:g.197085755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.197085755C>T , CM000665.2:g.197085755C>T GRCh38
NC_000003.11:g.196812626C>T , CM000665.1:g.196812626C>T GRCh37
NC_000003.10:g.198297023C>T NCBI36
NG_029099.1:g.217822G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357674.9:c.1663G>A ENSP00000350303.6:p.Ala555Thr
ENST00000422288.6:c.1609G>A ENSP00000413238.1:p.Ala537Thr
ENST00000436682.6:c.703G>A ENSP00000393771.2:p.Ala235Thr
ENST00000469073.2:c.1537G>A ENSP00000499640.1:p.Ala513Thr
ENST00000653331.1:c.1414G>A ENSP00000499752.1:p.Ala472Thr
ENST00000653583.1:n.1335G>A
ENST00000653795.1:c.1513G>A ENSP00000499599.1:p.Ala505Thr
ENST00000654733.1:c.1375G>A ENSP00000499730.1:p.Ala459Thr
ENST00000654737.1:c.1609G>A ENSP00000499578.1:p.Ala537Thr
ENST00000655488.1:c.1663G>A ENSP00000499657.1:p.Ala555Thr
ENST00000656087.1:c.1663G>A ENSP00000499723.1:p.Ala555Thr
ENST00000656428.1:c.1636G>A ENSP00000499329.1:p.Ala546Thr
ENST00000656944.1:c.1663G>A ENSP00000499584.1:p.Ala555Thr
ENST00000657098.1:c.1360G>A ENSP00000499247.1:p.Ala454Thr
ENST00000657381.1:c.1663G>A ENSP00000499507.1:p.Ala555Thr
ENST00000658155.1:c.1375G>A ENSP00000499257.1:p.Ala459Thr
ENST00000658701.1:c.1663G>A ENSP00000499531.1:p.Ala555Thr
ENST00000659221.1:c.1663G>A ENSP00000499269.1:p.Ala555Thr
ENST00000659716.1:c.1663G>A ENSP00000499602.1:p.Ala555Thr
ENST00000660237.1:c.1493G>A ENSP00000499707.1:n.1493G>A
ENST00000660432.1:c.*1391G>A ENSP00000499677.1:n.*1391G>A
ENST00000660553.1:c.1513G>A ENSP00000499559.1:p.Ala505Thr
ENST00000660898.1:c.1762G>A ENSP00000499363.1:p.Ala588Thr
ENST00000661013.1:c.1663G>A ENSP00000499440.1:p.Ala555Thr
ENST00000661229.1:c.1583G>A
ENST00000661336.1:c.1609G>A ENSP00000499229.1:p.Ala537Thr
ENST00000661440.1:c.*1391G>A ENSP00000499381.1:n.*1391G>A
ENST00000661453.1:c.1663G>A ENSP00000499514.1:p.Ala555Thr
ENST00000662727.1:c.1663G>A ENSP00000499774.1:p.Ala555Thr
ENST00000663148.1:c.1663G>A ENSP00000499384.1:p.Ala555Thr
ENST00000664564.1:c.*767G>A ENSP00000499320.1:n.*767G>A
ENST00000664991.1:c.1663G>A ENSP00000499250.1:p.Ala555Thr
ENST00000665728.1:c.*924G>A ENSP00000499682.1:n.*924G>A
ENST00000666007.1:c.1609G>A ENSP00000499793.1:p.Ala537Thr
ENST00000667104.1:c.1609G>A ENSP00000499313.1:p.Ala537Thr
ENST00000667157.1:c.1663G>A MANE Select ENSP00000499414.1:p.Ala555Thr
ENST00000667971.1:c.1663G>A ENSP00000499347.1:p.Ala555Thr
ENST00000668578.1:n.1518G>A
ENST00000669332.1:c.1375G>A ENSP00000499499.1:p.Ala459Thr
ENST00000669565.1:c.1663G>A ENSP00000499413.1:p.Ala555Thr
ENST00000669714.1:c.*318G>A ENSP00000499698.1:n.*318G>A
ENST00000670366.1:c.*767G>A ENSP00000499310.1:n.*767G>A
ENST00000670455.1:c.1663G>A ENSP00000499542.1:p.Ala555Thr
ENST00000670935.1:c.1762G>A ENSP00000499437.1:p.Ala588Thr
ENST00000671185.1:c.1663G>A ENSP00000499580.1:p.Ala555Thr
ENST00000671246.1:c.1513G>A ENSP00000499692.1:p.Ala505Thr
ENST00000346964.6:c.1762G>A ENSP00000345731.2:p.Ala588Thr
ENST00000357674.8:c.1663G>A ENSP00000350303.5:p.Ala555Thr
ENST00000392381.7:c.1762G>A ENSP00000376186.3:p.Ala588Thr
ENST00000392382.6:c.1663G>A ENSP00000376187.2:p.Ala555Thr
ENST00000419227.5:c.*115G>A ENSP00000396768.1:n.*115G>A
ENST00000419354.5:c.1762G>A ENSP00000407531.1:p.Ala588Thr
ENST00000422288.5:c.1609G>A ENSP00000413238.1:p.Ala537Thr
ENST00000443183.5:c.1414G>A ENSP00000396658.1:p.Ala472Thr
ENST00000448528.6:c.1762G>A ENSP00000391732.2:p.Ala588Thr
ENST00000450955.5:c.1663G>A ENSP00000411278.1:p.Ala555Thr
ENST00000452595.5:c.1414G>A ENSP00000398939.1:p.Ala472Thr
ENST00000471733.5:n.1790G>A
NM_001098424.1:c.1762G>A NP_001091894.1:p.Ala588Thr
NM_001204386.1:c.1663G>A NP_001191315.1:p.Ala555Thr
NM_001204387.1:c.1414G>A NP_001191316.1:p.Ala472Thr
NM_001204388.1:c.1414G>A NP_001191317.1:p.Ala472Thr
NM_001290983.1:c.1762G>A NP_001277912.1:p.Ala588Thr
NM_004087.2:c.1762G>A NP_004078.2:p.Ala588Thr
XM_005269289.2:c.1762G>A XP_005269346.1:p.Ala588Thr
XM_005269301.3:c.1513G>A XP_005269358.1:p.Ala505Thr
XM_011512493.1:c.1762G>A XP_011510795.1:p.Ala588Thr
XM_011512494.1:c.1762G>A XP_011510796.1:p.Ala588Thr
XM_011512495.1:c.1762G>A XP_011510797.1:p.Ala588Thr
XM_011512496.1:c.1762G>A XP_011510798.1:p.Ala588Thr
XM_011512497.1:c.1762G>A XP_011510799.1:p.Ala588Thr
XM_011512498.1:c.1762G>A XP_011510800.1:p.Ala588Thr
XM_011512499.1:c.1762G>A XP_011510801.1:p.Ala588Thr
XM_011512500.1:c.1762G>A XP_011510802.1:p.Ala588Thr
XM_011512501.1:c.1663G>A XP_011510803.1:p.Ala555Thr
XM_011512502.1:c.1762G>A XP_011510804.1:p.Ala588Thr
XM_011512503.1:c.1663G>A XP_011510805.1:p.Ala555Thr
XM_011512504.1:c.1609G>A XP_011510806.1:p.Ala537Thr
XM_011512505.1:c.1663G>A XP_011510807.1:p.Ala555Thr
XM_011512506.1:c.1609G>A XP_011510808.1:p.Ala537Thr
XM_011512507.1:c.1414G>A XP_011510809.1:p.Ala472Thr
XM_011512508.1:c.1762G>A XP_011510810.1:p.Ala588Thr
XR_246039.2:n.2231G>A
XR_924108.1:n.2231G>A
NM_001363865.1:c.1663G>A NP_001350794.1:p.Ala555Thr
NM_001366203.1:c.1609G>A NP_001353132.1:p.Ala537Thr
NM_001366204.1:c.1663G>A NP_001353133.1:p.Ala555Thr
NM_001366205.1:c.1663G>A NP_001353134.1:p.Ala555Thr
NM_001366206.1:c.1609G>A NP_001353135.1:p.Ala537Thr
NM_001366207.1:c.1663G>A MANE Select NP_001353136.1:p.Ala555Thr
NM_001366208.1:c.1663G>A NP_001353137.1:p.Ala555Thr
NM_001366209.1:c.1663G>A NP_001353138.1:p.Ala555Thr
NM_001366210.1:c.1663G>A NP_001353139.1:p.Ala555Thr
NM_001366211.1:c.1663G>A NP_001353140.1:p.Ala555Thr
NM_001366212.1:c.1663G>A NP_001353141.1:p.Ala555Thr
NM_001366213.1:c.1663G>A NP_001353142.1:p.Ala555Thr
NM_001366214.1:c.1762G>A NP_001353143.1:p.Ala588Thr
NM_001366215.1:c.1663G>A NP_001353144.1:p.Ala555Thr
NM_001366216.1:c.1609G>A NP_001353145.1:p.Ala537Thr
NM_001366217.1:c.1663G>A NP_001353146.1:p.Ala555Thr
NM_001366218.1:c.1762G>A NP_001353147.1:p.Ala588Thr
NM_001366219.1:c.1609G>A NP_001353148.1:p.Ala537Thr
NM_001366220.1:c.1609G>A NP_001353149.1:p.Ala537Thr
NM_001366221.1:c.1513G>A NP_001353150.1:p.Ala505Thr
NM_001366222.1:c.1513G>A NP_001353151.1:p.Ala505Thr
NR_158764.1:n.2157G>A
NR_158765.1:n.2286G>A
NR_158766.1:n.1478G>A
NR_158767.1:n.1478G>A
XM_005269289.4:c.1762G>A XP_005269346.1:p.Ala588Thr
XM_011512502.3:c.1762G>A XP_011510804.1:p.Ala588Thr
XM_017005800.1:c.1762G>A XP_016861289.1:p.Ala588Thr
XM_017005801.1:c.1762G>A XP_016861290.1:p.Ala588Thr
XM_017005802.1:c.1762G>A XP_016861291.1:p.Ala588Thr
XM_017005803.1:c.1762G>A XP_016861292.1:p.Ala588Thr
XM_017005811.2:c.1609G>A XP_016861300.1:p.Ala537Thr
XM_017005812.1:c.1609G>A XP_016861301.1:p.Ala537Thr
XM_017005813.1:c.1609G>A XP_016861302.1:p.Ala537Thr
XM_017005819.1:c.1663G>A XP_016861308.1:p.Ala555Thr
XM_017005821.2:c.1513G>A XP_016861310.1:p.Ala505Thr
XM_017005823.2:c.1414G>A XP_016861312.1:p.Ala472Thr
XM_017005824.2:c.541G>A XP_016861313.1:p.Ala181Thr
XR_001740036.2:n.2237G>A
XR_001740037.2:n.2237G>A
XR_001740038.2:n.2237G>A
XR_001740039.2:n.2237G>A
XR_001740040.2:n.2084G>A
XR_001740043.2:n.2138G>A
XR_001740044.2:n.2084G>A
XR_924108.3:n.2237G>A
NM_001204387.2:c.1414G>A NP_001191316.1:p.Ala472Thr
NM_001204388.2:c.1414G>A NP_001191317.1:p.Ala472Thr
NM_001290983.2:c.1762G>A NP_001277912.1:p.Ala588Thr
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