Canonical Allele Identifier: CA397723116
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1348732355
gnomAD v2: 17-7124918-C-T
gnomAD v4: 17-7221599-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221599C>T , CM000679.2:g.7221599C>T GRCh38
NC_000017.10:g.7124918C>T , CM000679.1:g.7124918C>T GRCh37
NC_000017.9:g.7065642C>T NCBI36
NG_007975.1:g.6766C>T
NG_008391.2:g.3452G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.539C>T MANE Select ENSP00000349297.5:p.Ala180Val
ENST00000322910.9:c.*494C>T ENSP00000325395.5:n.*494C>T
ENST00000350303.9:c.473C>T ENSP00000344152.5:p.Ala158Val
ENST00000356839.9:c.539C>T ENSP00000349297.5:p.Ala180Val
ENST00000543245.6:c.608C>T ENSP00000438689.2:p.Ala203Val
ENST00000577191.5:n.616C>T
ENST00000577433.5:n.747C>T
ENST00000577857.5:n.355C>T
ENST00000579286.5:n.720C>T
ENST00000579886.2:c.377C>T ENSP00000463246.1:p.Ala126Val
ENST00000580365.1:n.270C>T
ENST00000581378.5:c.257C>T
ENST00000581562.5:n.525-353C>T
ENST00000582166.1:n.520C>T
ENST00000583312.5:c.539C>T ENSP00000467920.1:p.Ala180Val
ENST00000583760.1:n.321C>T
NM_000018.3:c.539C>T NP_000009.1:p.Ala180Val
NM_001033859.2:c.473C>T NP_001029031.1:p.Ala158Val
NM_001270447.1:c.608C>T NP_001257376.1:p.Ala203Val
NM_001270448.1:c.311C>T NP_001257377.1:p.Ala104Val
XM_006721516.2:c.539C>T XP_006721579.2:p.Ala180Val
XM_011523829.1:c.539C>T XP_011522131.1:p.Ala180Val
XM_011523830.1:c.539C>T XP_011522132.1:p.Ala180Val
XR_934021.1:n.646C>T
XR_934022.1:n.646C>T
XR_934023.1:n.646C>T
XM_006721516.3:c.539C>T XP_006721579.2:p.Ala180Val
XM_011523829.2:c.539C>T XP_011522131.1:p.Ala180Val
XM_011523830.2:c.539C>T XP_011522132.1:p.Ala180Val
XM_024450741.1:c.539C>T XP_024306509.1:p.Ala180Val
XR_934021.2:n.598C>T
XR_934022.2:n.598C>T
XR_934023.2:n.598C>T
NM_000018.4:c.539C>T MANE Select NP_000009.1:p.Ala180Val
NM_001033859.3:c.473C>T NP_001029031.1:p.Ala158Val
NM_001270447.2:c.608C>T NP_001257376.1:p.Ala203Val
NM_001270448.2:c.311C>T NP_001257377.1:p.Ala104Val