Canonical Allele Identifier: CA397725337
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1509950
ClinVar RCV Id: RCV002042935
dbSNP Id: rs370282954

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224328G>C , CM000679.2:g.7224328G>C GRCh38
NC_000017.10:g.7127647G>C , CM000679.1:g.7127647G>C GRCh37
NC_000017.9:g.7068371G>C NCBI36
NG_007975.1:g.9495G>C
NG_008391.2:g.723C>G
NG_033038.1:g.15217C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1540G>C MANE Select ENSP00000349297.5:p.Gly514Arg
ENST00000322910.9:c.*1495G>C ENSP00000325395.5:n.*1495G>C
ENST00000350303.9:c.1474G>C ENSP00000344152.5:p.Gly492Arg
ENST00000356839.9:c.1540G>C ENSP00000349297.5:p.Gly514Arg
ENST00000542255.6:c.398G>C
ENST00000543245.6:c.1609G>C ENSP00000438689.2:p.Gly537Arg
ENST00000578319.5:n.35G>C
ENST00000578711.1:n.824G>C
ENST00000578809.5:n.112G>C
ENST00000579391.1:n.148G>C
ENST00000579425.5:n.656G>C
ENST00000579546.1:c.279G>C
ENST00000579894.5:n.327G>C
ENST00000582450.1:n.48G>C
ENST00000583074.5:n.161G>C
ENST00000583850.5:n.315G>C
ENST00000583858.5:c.471G>C
ENST00000585203.6:n.731G>C
NM_000018.3:c.1540G>C NP_000009.1:p.Gly514Arg
NM_001033859.2:c.1474G>C NP_001029031.1:p.Gly492Arg
NM_001270447.1:c.1609G>C NP_001257376.1:p.Gly537Arg
NM_001270448.1:c.1312G>C NP_001257377.1:p.Gly438Arg
XM_006721516.2:c.1540G>C XP_006721579.2:p.Gly514Arg
XM_011523829.1:c.1442G>C XP_011522131.1:p.Arg481Thr
XM_011523830.1:c.1442G>C XP_011522132.1:p.Arg481Thr
XR_934021.1:n.1647G>C
XR_934022.1:n.1549G>C
XR_934023.1:n.1549G>C
XM_006721516.3:c.1540G>C XP_006721579.2:p.Gly514Arg
XM_011523829.2:c.1442G>C XP_011522131.1:p.Arg481Thr
XM_011523830.2:c.1442G>C XP_011522132.1:p.Arg481Thr
XM_024450741.1:c.1442G>C XP_024306509.1:p.Arg481Thr
XR_934021.2:n.1599G>C
XR_934022.2:n.1501G>C
XR_934023.2:n.1501G>C
NM_000018.4:c.1540G>C MANE Select NP_000009.1:p.Gly514Arg
NM_001033859.3:c.1474G>C NP_001029031.1:p.Gly492Arg
NM_001270447.2:c.1609G>C NP_001257376.1:p.Gly537Arg
NM_001270448.2:c.1312G>C NP_001257377.1:p.Gly438Arg