Canonical Allele Identifier: CA397725082
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1597535735
gnomAD v4: 17-7224060-G-T
MyVariant Identifiers: chr17:g.7127379G>T (hg19) chr17:g.7224060G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224060G>T , CM000679.2:g.7224060G>T GRCh38
NC_000017.10:g.7127379G>T , CM000679.1:g.7127379G>T GRCh37
NC_000017.9:g.7068103G>T NCBI36
NG_007975.1:g.9227G>T
NG_008391.2:g.991C>A
NG_033038.1:g.15485C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1425G>T MANE Select ENSP00000349297.5:p.Gln475His
ENST00000322910.9:c.*1380G>T ENSP00000325395.5:n.*1380G>T
ENST00000350303.9:c.1359G>T ENSP00000344152.5:p.Gln453His
ENST00000356839.9:c.1425G>T ENSP00000349297.5:p.Gln475His
ENST00000542255.6:c.283G>T
ENST00000543245.6:c.1494G>T ENSP00000438689.2:p.Gln498His
ENST00000578711.1:n.556G>T
ENST00000579425.5:n.541G>T
ENST00000579546.1:c.262G>T
ENST00000579894.5:n.136G>T
ENST00000583074.5:n.144G>T
ENST00000583850.5:n.200G>T
ENST00000583858.5:c.454G>T
ENST00000585203.6:n.616G>T
NM_000018.3:c.1425G>T NP_000009.1:p.Gln475His
NM_001033859.2:c.1359G>T NP_001029031.1:p.Gln453His
NM_001270447.1:c.1494G>T NP_001257376.1:p.Gln498His
NM_001270448.1:c.1197G>T NP_001257377.1:p.Gln399His
XM_006721516.2:c.1425G>T XP_006721579.2:p.Gln475His
XM_011523829.1:c.1425G>T XP_011522131.1:p.Gln475His
XM_011523830.1:c.1425G>T XP_011522132.1:p.Gln475His
XR_934021.1:n.1532G>T
XR_934022.1:n.1532G>T
XR_934023.1:n.1532G>T
XM_006721516.3:c.1425G>T XP_006721579.2:p.Gln475His
XM_011523829.2:c.1425G>T XP_011522131.1:p.Gln475His
XM_011523830.2:c.1425G>T XP_011522132.1:p.Gln475His
XM_024450741.1:c.1425G>T XP_024306509.1:p.Gln475His
XR_934021.2:n.1484G>T
XR_934022.2:n.1484G>T
XR_934023.2:n.1484G>T
NM_000018.4:c.1425G>T MANE Select NP_000009.1:p.Gln475His
NM_001033859.3:c.1359G>T NP_001029031.1:p.Gln453His
NM_001270447.2:c.1494G>T NP_001257376.1:p.Gln498His
NM_001270448.2:c.1197G>T NP_001257377.1:p.Gln399His
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