Canonical Allele Identifier: CA397723152
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 450792
ClinVar RCV Id: RCV000521940

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221614G>C , CM000679.2:g.7221614G>C GRCh38
NC_000017.10:g.7124933G>C , CM000679.1:g.7124933G>C GRCh37
NC_000017.9:g.7065657G>C NCBI36
NG_007975.1:g.6781G>C
NG_008391.2:g.3437C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.554G>C MANE Select ENSP00000349297.5:p.Gly185Ala
ENST00000322910.9:c.*509G>C ENSP00000325395.5:p.=
ENST00000350303.9:c.488G>C ENSP00000344152.5:p.Gly163Ala
ENST00000356839.9:c.554G>C ENSP00000349297.5:p.Gly185Ala
ENST00000543245.6:c.623G>C ENSP00000438689.2:p.Gly208Ala
ENST00000577191.5:n.631G>C
ENST00000577433.5:n.762G>C
ENST00000577857.5:n.370G>C
ENST00000579286.5:n.735G>C
ENST00000579886.2:c.392G>C ENSP00000463246.1:p.Gly131Ala
ENST00000580365.1:n.285G>C
ENST00000581378.5:n.272G>C
ENST00000581562.5:n.525-338G>C
ENST00000582166.1:n.535G>C
ENST00000583312.5:c.554G>C ENSP00000467920.1:p.Gly185Ala
ENST00000583760.1:n.336G>C
NM_000018.3:c.554G>C NP_000009.1:p.Gly185Ala
NM_001033859.2:c.488G>C NP_001029031.1:p.Gly163Ala
NM_001270447.1:c.623G>C NP_001257376.1:p.Gly208Ala
NM_001270448.1:c.326G>C NP_001257377.1:p.Gly109Ala
XM_006721516.2:c.554G>C XP_006721579.2:p.Gly185Ala
XM_011523829.1:c.554G>C XP_011522131.1:p.Gly185Ala
XM_011523830.1:c.554G>C XP_011522132.1:p.Gly185Ala
XR_934021.1:n.661G>C
XR_934022.1:n.661G>C
XR_934023.1:n.661G>C
XM_006721516.3:c.554G>C XP_006721579.2:p.Gly185Ala
XM_011523829.2:c.554G>C XP_011522131.1:p.Gly185Ala
XM_011523830.2:c.554G>C XP_011522132.1:p.Gly185Ala
XM_024450741.1:c.554G>C XP_024306509.1:p.Gly185Ala
XR_934021.2:n.613G>C
XR_934022.2:n.613G>C
XR_934023.2:n.613G>C
NM_000018.4:c.554G>C MANE Select NP_000009.1:p.Gly185Ala
NM_001033859.3:c.488G>C NP_001029031.1:p.Gly163Ala
NM_001270447.2:c.623G>C NP_001257376.1:p.Gly208Ala
NM_001270448.2:c.326G>C NP_001257377.1:p.Gly109Ala