Canonical Allele Identifier: CA397724609
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2680258
ClinVar RCV Id: RCV003460250

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223674G>C , CM000679.2:g.7223674G>C GRCh38
NC_000017.10:g.7126993G>C , CM000679.1:g.7126993G>C GRCh37
NC_000017.9:g.7067717G>C NCBI36
NG_007975.1:g.8841G>C
NG_008391.2:g.1377C>G
NG_033038.1:g.15871C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1213G>C MANE Select ENSP00000349297.5:p.Asp405His
ENST00000322910.9:c.*1168G>C ENSP00000325395.5:n.*1168G>C
ENST00000350303.9:c.1147G>C ENSP00000344152.5:p.Asp383His
ENST00000356839.9:c.1213G>C ENSP00000349297.5:p.Asp405His
ENST00000542255.6:c.71G>C
ENST00000543245.6:c.1282G>C ENSP00000438689.2:p.Asp428His
ENST00000578579.2:n.384G>C
ENST00000578711.1:n.170G>C
ENST00000578824.5:n.629G>C
ENST00000579425.5:n.237G>C
ENST00000579546.1:c.50G>C
ENST00000583858.5:c.242G>C
ENST00000585203.6:n.421G>C
NM_000018.3:c.1213G>C NP_000009.1:p.Asp405His
NM_001033859.2:c.1147G>C NP_001029031.1:p.Asp383His
NM_001270447.1:c.1282G>C NP_001257376.1:p.Asp428His
NM_001270448.1:c.985G>C NP_001257377.1:p.Asp329His
XM_006721516.2:c.1213G>C XP_006721579.2:p.Asp405His
XM_011523829.1:c.1213G>C XP_011522131.1:p.Asp405His
XM_011523830.1:c.1213G>C XP_011522132.1:p.Asp405His
XR_934021.1:n.1320G>C
XR_934022.1:n.1320G>C
XR_934023.1:n.1320G>C
XM_006721516.3:c.1213G>C XP_006721579.2:p.Asp405His
XM_011523829.2:c.1213G>C XP_011522131.1:p.Asp405His
XM_011523830.2:c.1213G>C XP_011522132.1:p.Asp405His
XM_024450741.1:c.1213G>C XP_024306509.1:p.Asp405His
XR_934021.2:n.1272G>C
XR_934022.2:n.1272G>C
XR_934023.2:n.1272G>C
NM_000018.4:c.1213G>C MANE Select NP_000009.1:p.Asp405His
NM_001033859.3:c.1147G>C NP_001029031.1:p.Asp383His
NM_001270447.2:c.1282G>C NP_001257376.1:p.Asp428His
NM_001270448.2:c.985G>C NP_001257377.1:p.Asp329His