Canonical Allele Identifier: CA274997
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 194317
dbSNP Id: rs794727113
gnomAD v2: 17-7127311-C-T
gnomAD v3: 17-7223992-C-T
gnomAD v4: 17-7223992-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223992C>T , CM000679.2:g.7223992C>T GRCh38
NC_000017.10:g.7127311C>T , CM000679.1:g.7127311C>T GRCh37
NC_000017.9:g.7068035C>T NCBI36
NG_007975.1:g.9159C>T
NG_008391.2:g.1059G>A
NG_033038.1:g.15553G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1357C>T MANE Select ENSP00000349297.5:p.Arg453Ter
ENST00000322910.9:c.*1312C>T ENSP00000325395.5:n.*1312C>T
ENST00000350303.9:c.1291C>T ENSP00000344152.5:p.Arg431Ter
ENST00000356839.9:c.1357C>T ENSP00000349297.5:p.Arg453Ter
ENST00000542255.6:c.215C>T
ENST00000543245.6:c.1426C>T ENSP00000438689.2:p.Arg476Ter
ENST00000578711.1:n.488C>T
ENST00000579425.5:n.473C>T
ENST00000579546.1:c.194C>T
ENST00000579894.5:n.68C>T
ENST00000583074.5:n.76C>T
ENST00000583850.5:n.132C>T
ENST00000583858.5:c.386C>T
ENST00000585203.6:n.548C>T
NM_000018.3:c.1357C>T NP_000009.1:p.Arg453Ter
NM_001033859.2:c.1291C>T NP_001029031.1:p.Arg431Ter
NM_001270447.1:c.1426C>T NP_001257376.1:p.Arg476Ter
NM_001270448.1:c.1129C>T NP_001257377.1:p.Arg377Ter
XM_006721516.2:c.1357C>T XP_006721579.2:p.Arg453Ter
XM_011523829.1:c.1357C>T XP_011522131.1:p.Arg453Ter
XM_011523830.1:c.1357C>T XP_011522132.1:p.Arg453Ter
XR_934021.1:n.1464C>T
XR_934022.1:n.1464C>T
XR_934023.1:n.1464C>T
XM_006721516.3:c.1357C>T XP_006721579.2:p.Arg453Ter
XM_011523829.2:c.1357C>T XP_011522131.1:p.Arg453Ter
XM_011523830.2:c.1357C>T XP_011522132.1:p.Arg453Ter
XM_024450741.1:c.1357C>T XP_024306509.1:p.Arg453Ter
XR_934021.2:n.1416C>T
XR_934022.2:n.1416C>T
XR_934023.2:n.1416C>T
NM_000018.4:c.1357C>T MANE Select NP_000009.1:p.Arg453Ter
NM_001033859.3:c.1291C>T NP_001029031.1:p.Arg431Ter
NM_001270447.2:c.1426C>T NP_001257376.1:p.Arg476Ter
NM_001270448.2:c.1129C>T NP_001257377.1:p.Arg377Ter