Canonical Allele Identifier: CA397724086
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1372290
ClinVar RCV Id: RCV001872874
dbSNP Id: rs1205407134
MyVariant Identifiers: chr17:g.7126084T>A (hg19) chr17:g.7222765T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222765T>A , CM000679.2:g.7222765T>A GRCh38
NC_000017.10:g.7126084T>A , CM000679.1:g.7126084T>A GRCh37
NC_000017.9:g.7066808T>A NCBI36
NG_007975.1:g.7932T>A
NG_008391.2:g.2286A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.977T>A MANE Select ENSP00000349297.5:p.Val326Asp
ENST00000322910.9:c.*932T>A ENSP00000325395.5:n.*932T>A
ENST00000350303.9:c.911T>A ENSP00000344152.5:p.Val304Asp
ENST00000356839.9:c.977T>A ENSP00000349297.5:p.Val326Asp
ENST00000543245.6:c.1046T>A ENSP00000438689.2:p.Val349Asp
ENST00000578824.5:n.126T>A
ENST00000581378.5:c.695T>A
ENST00000582379.1:n.361T>A
ENST00000583858.5:c.6T>A
NM_000018.3:c.977T>A NP_000009.1:p.Val326Asp
NM_001033859.2:c.911T>A NP_001029031.1:p.Val304Asp
NM_001270447.1:c.1046T>A NP_001257376.1:p.Val349Asp
NM_001270448.1:c.749T>A NP_001257377.1:p.Val250Asp
XM_006721516.2:c.977T>A XP_006721579.2:p.Val326Asp
XM_011523829.1:c.977T>A XP_011522131.1:p.Val326Asp
XM_011523830.1:c.977T>A XP_011522132.1:p.Val326Asp
XR_934021.1:n.1084T>A
XR_934022.1:n.1084T>A
XR_934023.1:n.1084T>A
XM_006721516.3:c.977T>A XP_006721579.2:p.Val326Asp
XM_011523829.2:c.977T>A XP_011522131.1:p.Val326Asp
XM_011523830.2:c.977T>A XP_011522132.1:p.Val326Asp
XM_024450741.1:c.977T>A XP_024306509.1:p.Val326Asp
XR_934021.2:n.1036T>A
XR_934022.2:n.1036T>A
XR_934023.2:n.1036T>A
NM_000018.4:c.977T>A MANE Select NP_000009.1:p.Val326Asp
NM_001033859.3:c.911T>A NP_001029031.1:p.Val304Asp
NM_001270447.2:c.1046T>A NP_001257376.1:p.Val349Asp
NM_001270448.2:c.749T>A NP_001257377.1:p.Val250Asp
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