Canonical Allele Identifier: CA8337772
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 516249
dbSNP Id: rs374633807
gnomAD v2: 17-7125013-C-A
gnomAD v3: 17-7221694-C-A
gnomAD v4: 17-7221694-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221694C>A , CM000679.2:g.7221694C>A GRCh38
NC_000017.10:g.7125013C>A , CM000679.1:g.7125013C>A GRCh37
NC_000017.9:g.7065737C>A NCBI36
NG_007975.1:g.6861C>A
NG_008391.2:g.3357G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.622+12C>A MANE Select ENSP00000349297.5:n.622+12C>A
ENST00000322910.9:c.*577+12C>A ENSP00000325395.5:n.*577+12C>A
ENST00000350303.9:c.556+12C>A ENSP00000344152.5:n.556+12C>A
ENST00000356839.9:c.622+12C>A ENSP00000349297.5:n.622+12C>A
ENST00000543245.6:c.691+12C>A ENSP00000438689.2:n.691+12C>A
ENST00000577191.5:n.699+12C>A
ENST00000577857.5:n.438+12C>A
ENST00000579286.5:n.803+12C>A
ENST00000579886.2:c.460+12C>A ENSP00000463246.1:n.460+12C>A
ENST00000580365.1:n.353+12C>A
ENST00000581378.5:c.340+12C>A
ENST00000581562.5:n.525-258C>A
ENST00000583312.5:c.622+12C>A ENSP00000467920.1:n.622+12C>A
ENST00000583760.1:n.404+12C>A
NM_000018.3:c.622+12C>A NP_000009.1:n.622+12C>A
NM_001033859.2:c.556+12C>A NP_001029031.1:n.556+12C>A
NM_001270447.1:c.691+12C>A NP_001257376.1:n.691+12C>A
NM_001270448.1:c.394+12C>A NP_001257377.1:n.394+12C>A
XM_006721516.2:c.622+12C>A XP_006721579.2:n.622+12C>A
XM_011523829.1:c.622+12C>A XP_011522131.1:n.622+12C>A
XM_011523830.1:c.622+12C>A XP_011522132.1:n.622+12C>A
XR_934021.1:n.729+12C>A
XR_934022.1:n.729+12C>A
XR_934023.1:n.729+12C>A
XM_006721516.3:c.622+12C>A XP_006721579.2:n.622+12C>A
XM_011523829.2:c.622+12C>A XP_011522131.1:n.622+12C>A
XM_011523830.2:c.622+12C>A XP_011522132.1:n.622+12C>A
XM_024450741.1:c.622+12C>A XP_024306509.1:n.622+12C>A
XR_934021.2:n.681+12C>A
XR_934022.2:n.681+12C>A
XR_934023.2:n.681+12C>A
NM_000018.4:c.622+12C>A MANE Select NP_000009.1:n.622+12C>A
NM_001033859.3:c.556+12C>A NP_001029031.1:n.556+12C>A
NM_001270447.2:c.691+12C>A NP_001257376.1:n.691+12C>A
NM_001270448.2:c.394+12C>A NP_001257377.1:n.394+12C>A