Canonical Allele Identifier: CA397723800
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1060541
ClinVar RCV Id: RCV001369986
dbSNP Id: rs2142978096

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222265G>C , CM000679.2:g.7222265G>C GRCh38
NC_000017.10:g.7125584G>C , CM000679.1:g.7125584G>C GRCh37
NC_000017.9:g.7066308G>C NCBI36
NG_007975.1:g.7432G>C
NG_008391.2:g.2786C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.841G>C MANE Select ENSP00000349297.5:p.Ala281Pro
ENST00000322910.9:c.*796G>C ENSP00000325395.5:n.*796G>C
ENST00000350303.9:c.775G>C ENSP00000344152.5:p.Ala259Pro
ENST00000356839.9:c.841G>C ENSP00000349297.5:p.Ala281Pro
ENST00000543245.6:c.910G>C ENSP00000438689.2:p.Ala304Pro
ENST00000577191.5:n.1013G>C
ENST00000581378.5:c.559G>C
ENST00000582379.1:n.225G>C
NM_000018.3:c.841G>C NP_000009.1:p.Ala281Pro
NM_001033859.2:c.775G>C NP_001029031.1:p.Ala259Pro
NM_001270447.1:c.910G>C NP_001257376.1:p.Ala304Pro
NM_001270448.1:c.613G>C NP_001257377.1:p.Ala205Pro
XM_006721516.2:c.841G>C XP_006721579.2:p.Ala281Pro
XM_011523829.1:c.841G>C XP_011522131.1:p.Ala281Pro
XM_011523830.1:c.841G>C XP_011522132.1:p.Ala281Pro
XR_934021.1:n.948G>C
XR_934022.1:n.948G>C
XR_934023.1:n.948G>C
XM_006721516.3:c.841G>C XP_006721579.2:p.Ala281Pro
XM_011523829.2:c.841G>C XP_011522131.1:p.Ala281Pro
XM_011523830.2:c.841G>C XP_011522132.1:p.Ala281Pro
XM_024450741.1:c.841G>C XP_024306509.1:p.Ala281Pro
XR_934021.2:n.900G>C
XR_934022.2:n.900G>C
XR_934023.2:n.900G>C
NM_000018.4:c.841G>C MANE Select NP_000009.1:p.Ala281Pro
NM_001033859.3:c.775G>C NP_001029031.1:p.Ala259Pro
NM_001270447.2:c.910G>C NP_001257376.1:p.Ala304Pro
NM_001270448.2:c.613G>C NP_001257377.1:p.Ala205Pro