Canonical Allele Identifier: CA497620272
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs752314368
MyVariant Identifiers: chr17:g.7126157T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222838T>G , CM000679.2:g.7222838T>G GRCh38
NC_000017.10:g.7126157T>G , CM000679.1:g.7126157T>G GRCh37
NC_000017.9:g.7066881T>G NCBI36
NG_007975.1:g.8005T>G
NG_008391.2:g.2213A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1050T>G MANE Select ENSP00000349297.5:p.Gly350=
ENST00000322910.9:c.*1005T>G ENSP00000325395.5:n.*1005T>G
ENST00000350303.9:c.984T>G ENSP00000344152.5:p.Gly328=
ENST00000356839.9:c.1050T>G ENSP00000349297.5:p.Gly350=
ENST00000543245.6:c.1119T>G ENSP00000438689.2:p.Gly373=
ENST00000578824.5:n.199T>G
ENST00000582379.1:n.434T>G
ENST00000583858.5:c.79T>G
NM_000018.3:c.1050T>G NP_000009.1:p.Gly350=
NM_001033859.2:c.984T>G NP_001029031.1:p.Gly328=
NM_001270447.1:c.1119T>G NP_001257376.1:p.Gly373=
NM_001270448.1:c.822T>G NP_001257377.1:p.Gly274=
XM_006721516.2:c.1050T>G XP_006721579.2:p.Gly350=
XM_011523829.1:c.1050T>G XP_011522131.1:p.Gly350=
XM_011523830.1:c.1050T>G XP_011522132.1:p.Gly350=
XR_934021.1:n.1157T>G
XR_934022.1:n.1157T>G
XR_934023.1:n.1157T>G
XM_006721516.3:c.1050T>G XP_006721579.2:p.Gly350=
XM_011523829.2:c.1050T>G XP_011522131.1:p.Gly350=
XM_011523830.2:c.1050T>G XP_011522132.1:p.Gly350=
XM_024450741.1:c.1050T>G XP_024306509.1:p.Gly350=
XR_934021.2:n.1109T>G
XR_934022.2:n.1109T>G
XR_934023.2:n.1109T>G
NM_000018.4:c.1050T>G MANE Select NP_000009.1:p.Gly350=
NM_001033859.3:c.984T>G NP_001029031.1:p.Gly328=
NM_001270447.2:c.1119T>G NP_001257376.1:p.Gly373=
NM_001270448.2:c.822T>G NP_001257377.1:p.Gly274=
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