Canonical Allele Identifier: CA397723019
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2699930
ClinVar RCV Id: RCV003498212
dbSNP Id: rs1240846419

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.490G>T MANE Select ENSP00000349297.5:p.Val164Leu
ENST00000322910.9:c.*445G>T ENSP00000325395.5:n.*445G>T
ENST00000350303.9:c.424G>T ENSP00000344152.5:p.Val142Leu
ENST00000356839.9:c.490G>T ENSP00000349297.5:p.Val164Leu
ENST00000543245.6:c.559G>T ENSP00000438689.2:p.Val187Leu
ENST00000577191.5:n.567G>T
ENST00000577433.5:n.698G>T
ENST00000577857.5:n.306G>T
ENST00000579286.5:n.671G>T
ENST00000579886.2:c.328G>T ENSP00000463246.1:p.Val110Leu
ENST00000580365.1:n.221G>T
ENST00000581378.5:c.208G>T
ENST00000581562.5:n.525-402G>T
ENST00000582166.1:n.471G>T
ENST00000583312.5:c.490G>T ENSP00000467920.1:p.Val164Leu
ENST00000583760.1:n.272G>T
NM_000018.3:c.490G>T NP_000009.1:p.Val164Leu
NM_001033859.2:c.424G>T NP_001029031.1:p.Val142Leu
NM_001270447.1:c.559G>T NP_001257376.1:p.Val187Leu
NM_001270448.1:c.262G>T NP_001257377.1:p.Val88Leu
XM_006721516.2:c.490G>T XP_006721579.2:p.Val164Leu
XM_011523829.1:c.490G>T XP_011522131.1:p.Val164Leu
XM_011523830.1:c.490G>T XP_011522132.1:p.Val164Leu
XR_934021.1:n.597G>T
XR_934022.1:n.597G>T
XR_934023.1:n.597G>T
XM_006721516.3:c.490G>T XP_006721579.2:p.Val164Leu
XM_011523829.2:c.490G>T XP_011522131.1:p.Val164Leu
XM_011523830.2:c.490G>T XP_011522132.1:p.Val164Leu
XM_024450741.1:c.490G>T XP_024306509.1:p.Val164Leu
XR_934021.2:n.549G>T
XR_934022.2:n.549G>T
XR_934023.2:n.549G>T
NM_000018.4:c.490G>T MANE Select NP_000009.1:p.Val164Leu
NM_001033859.3:c.424G>T NP_001029031.1:p.Val142Leu
NM_001270447.2:c.559G>T NP_001257376.1:p.Val187Leu
NM_001270448.2:c.262G>T NP_001257377.1:p.Val88Leu