Canonical Allele Identifier: CA397723017
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2747650
ClinVar RCV Id: RCV003497768

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221550G>A , CM000679.2:g.7221550G>A GRCh38
NC_000017.10:g.7124869G>A , CM000679.1:g.7124869G>A GRCh37
NC_000017.9:g.7065593G>A NCBI36
NG_007975.1:g.6717G>A
NG_008391.2:g.3501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.490G>A MANE Select ENSP00000349297.5:p.Val164Met
ENST00000322910.9:c.*445G>A ENSP00000325395.5:n.*445G>A
ENST00000350303.9:c.424G>A ENSP00000344152.5:p.Val142Met
ENST00000356839.9:c.490G>A ENSP00000349297.5:p.Val164Met
ENST00000543245.6:c.559G>A ENSP00000438689.2:p.Val187Met
ENST00000577191.5:n.567G>A
ENST00000577433.5:n.698G>A
ENST00000577857.5:n.306G>A
ENST00000579286.5:n.671G>A
ENST00000579886.2:c.328G>A ENSP00000463246.1:p.Val110Met
ENST00000580365.1:n.221G>A
ENST00000581378.5:c.208G>A
ENST00000581562.5:n.525-402G>A
ENST00000582166.1:n.471G>A
ENST00000583312.5:c.490G>A ENSP00000467920.1:p.Val164Met
ENST00000583760.1:n.272G>A
NM_000018.3:c.490G>A NP_000009.1:p.Val164Met
NM_001033859.2:c.424G>A NP_001029031.1:p.Val142Met
NM_001270447.1:c.559G>A NP_001257376.1:p.Val187Met
NM_001270448.1:c.262G>A NP_001257377.1:p.Val88Met
XM_006721516.2:c.490G>A XP_006721579.2:p.Val164Met
XM_011523829.1:c.490G>A XP_011522131.1:p.Val164Met
XM_011523830.1:c.490G>A XP_011522132.1:p.Val164Met
XR_934021.1:n.597G>A
XR_934022.1:n.597G>A
XR_934023.1:n.597G>A
XM_006721516.3:c.490G>A XP_006721579.2:p.Val164Met
XM_011523829.2:c.490G>A XP_011522131.1:p.Val164Met
XM_011523830.2:c.490G>A XP_011522132.1:p.Val164Met
XM_024450741.1:c.490G>A XP_024306509.1:p.Val164Met
XR_934021.2:n.549G>A
XR_934022.2:n.549G>A
XR_934023.2:n.549G>A
NM_000018.4:c.490G>A MANE Select NP_000009.1:p.Val164Met
NM_001033859.3:c.424G>A NP_001029031.1:p.Val142Met
NM_001270447.2:c.559G>A NP_001257376.1:p.Val187Met
NM_001270448.2:c.262G>A NP_001257377.1:p.Val88Met