Canonical Allele Identifier: CA16028087
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 862543
ClinVar RCV Id: RCV001200168 RCV002554571 RCV003650592
dbSNP Id: rs876660265
MyVariant Identifiers: chr5:g.112174375T>G (hg19) chr5:g.112838678T>G (hg38)
ERepo: CA16028087/MONDO:0021056/089
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838678T>G , CM000667.2:g.112838678T>G GRCh38
NC_000005.9:g.112174375T>G , CM000667.1:g.112174375T>G GRCh37
NC_000005.8:g.112202274T>G NCBI36
NG_008481.4:g.151158T>G , LRG_130:g.151158T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.2749T>G ENSP00000484935.2:n.2749T>G
ENST00000504915.3:c.3138T>G ENSP00000473355.2:p.Ser1046Arg
ENST00000505350.2:c.*3090T>G ENSP00000481752.1:n.*3090T>G
ENST00000507379.6:c.3030T>G ENSP00000423224.2:p.Ser1010Arg
ENST00000509732.6:c.3084T>G ENSP00000426541.2:p.Ser1028Arg
ENST00000512211.7:c.3084T>G ENSP00000423828.3:p.Ser1028Arg
ENST00000257430.9:c.3084T>G MANE Select ENSP00000257430.4:p.Ser1028Arg
ENST00000257430.8:c.3084T>G ENSP00000257430.4:p.Ser1028Arg
ENST00000502371.2:c.1437T>G
ENST00000507379.5:c.3030T>G ENSP00000423224.1:p.Ser1010Arg
ENST00000508376.6:c.3084T>G ENSP00000427089.2:p.Ser1028Arg
ENST00000508624.5:c.*2406T>G ENSP00000424265.1:n.*2406T>G
ENST00000512211.6:c.3084T>G ENSP00000423828.2:p.Ser1028Arg
ENST00000520401.1:c.230+9706T>G
NM_000038.5:c.3084T>G NP_000029.2:p.Ser1028Arg
NM_001127510.2:c.3084T>G NP_001120982.1:p.Ser1028Arg
NM_001127511.2:c.3030T>G NP_001120983.2:p.Ser1010Arg
NM_001354895.1:c.3084T>G NP_001341824.1:p.Ser1028Arg
NM_001354896.1:c.3138T>G NP_001341825.1:p.Ser1046Arg
NM_001354897.1:c.3114T>G NP_001341826.1:p.Ser1038Arg
NM_001354898.1:c.3009T>G NP_001341827.1:p.Ser1003Arg
NM_001354899.1:c.3000T>G NP_001341828.1:p.Ser1000Arg
NM_001354900.1:c.2961T>G NP_001341829.1:p.Ser987Arg
NM_001354901.1:c.2907T>G NP_001341830.1:p.Ser969Arg
NM_001354902.1:c.2811T>G NP_001341831.1:p.Ser937Arg
NM_001354903.1:c.2781T>G NP_001341832.1:p.Ser927Arg
NM_001354904.1:c.2706T>G NP_001341833.1:p.Ser902Arg
NM_001354905.1:c.2604T>G NP_001341834.1:p.Ser868Arg
NM_001354906.1:c.2235T>G NP_001341835.1:p.Ser745Arg
NM_000038.6:c.3084T>G MANE Select NP_000029.2:p.Ser1028Arg
NM_001127510.3:c.3084T>G NP_001120982.1:p.Ser1028Arg
NM_001127511.3:c.3030T>G NP_001120983.2:p.Ser1010Arg
NM_001354895.2:c.3084T>G NP_001341824.1:p.Ser1028Arg
NM_001354896.2:c.3138T>G NP_001341825.1:p.Ser1046Arg
NM_001354897.2:c.3114T>G NP_001341826.1:p.Ser1038Arg
NM_001354898.2:c.3009T>G NP_001341827.1:p.Ser1003Arg
NM_001354899.2:c.3000T>G NP_001341828.1:p.Ser1000Arg
NM_001354900.2:c.2961T>G NP_001341829.1:p.Ser987Arg
NM_001354901.2:c.2907T>G NP_001341830.1:p.Ser969Arg
NM_001354902.2:c.2811T>G NP_001341831.1:p.Ser937Arg
NM_001354903.2:c.2781T>G NP_001341832.1:p.Ser927Arg
NM_001354904.2:c.2706T>G NP_001341833.1:p.Ser902Arg
NM_001354905.2:c.2604T>G NP_001341834.1:p.Ser868Arg
NM_001354906.2:c.2235T>G NP_001341835.1:p.Ser745Arg
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