Canonical Allele Identifier: CA397723130
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932791
ClinVar RCV Id: RCV001200738
dbSNP Id: rs2071230096
gnomAD v4: 17-7221605-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221605A>C , CM000679.2:g.7221605A>C GRCh38
NC_000017.10:g.7124924A>C , CM000679.1:g.7124924A>C GRCh37
NC_000017.9:g.7065648A>C NCBI36
NG_007975.1:g.6772A>C
NG_008391.2:g.3446T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.545A>C MANE Select ENSP00000349297.5:p.Gln182Pro
ENST00000322910.9:c.*500A>C ENSP00000325395.5:n.*500A>C
ENST00000350303.9:c.479A>C ENSP00000344152.5:p.Gln160Pro
ENST00000356839.9:c.545A>C ENSP00000349297.5:p.Gln182Pro
ENST00000543245.6:c.614A>C ENSP00000438689.2:p.Gln205Pro
ENST00000577191.5:n.622A>C
ENST00000577433.5:n.753A>C
ENST00000577857.5:n.361A>C
ENST00000579286.5:n.726A>C
ENST00000579886.2:c.383A>C ENSP00000463246.1:p.Gln128Pro
ENST00000580365.1:n.276A>C
ENST00000581378.5:c.263A>C
ENST00000581562.5:n.525-347A>C
ENST00000582166.1:n.526A>C
ENST00000583312.5:c.545A>C ENSP00000467920.1:p.Gln182Pro
ENST00000583760.1:n.327A>C
NM_000018.3:c.545A>C NP_000009.1:p.Gln182Pro
NM_001033859.2:c.479A>C NP_001029031.1:p.Gln160Pro
NM_001270447.1:c.614A>C NP_001257376.1:p.Gln205Pro
NM_001270448.1:c.317A>C NP_001257377.1:p.Gln106Pro
XM_006721516.2:c.545A>C XP_006721579.2:p.Gln182Pro
XM_011523829.1:c.545A>C XP_011522131.1:p.Gln182Pro
XM_011523830.1:c.545A>C XP_011522132.1:p.Gln182Pro
XR_934021.1:n.652A>C
XR_934022.1:n.652A>C
XR_934023.1:n.652A>C
XM_006721516.3:c.545A>C XP_006721579.2:p.Gln182Pro
XM_011523829.2:c.545A>C XP_011522131.1:p.Gln182Pro
XM_011523830.2:c.545A>C XP_011522132.1:p.Gln182Pro
XM_024450741.1:c.545A>C XP_024306509.1:p.Gln182Pro
XR_934021.2:n.604A>C
XR_934022.2:n.604A>C
XR_934023.2:n.604A>C
NM_000018.4:c.545A>C MANE Select NP_000009.1:p.Gln182Pro
NM_001033859.3:c.479A>C NP_001029031.1:p.Gln160Pro
NM_001270447.2:c.614A>C NP_001257376.1:p.Gln205Pro
NM_001270448.2:c.317A>C NP_001257377.1:p.Gln106Pro