Canonical Allele Identifier: CA397724790

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 574848
• ClinVar RCV Id: RCV000696893
• dbSNP Id: rs781658827
• MyVariant Identifiers: chr17:g.7127153G>C (hg19) ; chr17:g.7223834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223834G>C , CM000679.2:g.7223834G>C	GRCh38
NC_000017.10:g.7127153G>C , CM000679.1:g.7127153G>C	GRCh37
NC_000017.9:g.7067877G>C	NCBI36
NG_007975.1:g.9001G>C
NG_008391.2:g.1217C>G
NG_033038.1:g.15711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1291G>C MANE Select	ENSP00000349297.5:p.Asp431His
ENST00000322910.9:c.*1246G>C	ENSP00000325395.5:n.*1246G>C
ENST00000350303.9:c.1225G>C	ENSP00000344152.5:p.Asp409His
ENST00000356839.9:c.1291G>C	ENSP00000349297.5:p.Asp431His
ENST00000542255.6:c.149G>C
ENST00000543245.6:c.1360G>C	ENSP00000438689.2:p.Asp454His
ENST00000578711.1:n.330G>C
ENST00000578824.5:n.707G>C
ENST00000579425.5:n.315G>C
ENST00000579546.1:c.128G>C
ENST00000583074.5:n.10G>C
ENST00000583850.5:n.66G>C
ENST00000583858.5:c.320G>C
ENST00000585203.6:n.499G>C
NM_000018.3:c.1291G>C	NP_000009.1:p.Asp431His
NM_001033859.2:c.1225G>C	NP_001029031.1:p.Asp409His
NM_001270447.1:c.1360G>C	NP_001257376.1:p.Asp454His
NM_001270448.1:c.1063G>C	NP_001257377.1:p.Asp355His
XM_006721516.2:c.1291G>C	XP_006721579.2:p.Asp431His
XM_011523829.1:c.1291G>C	XP_011522131.1:p.Asp431His
XM_011523830.1:c.1291G>C	XP_011522132.1:p.Asp431His
XR_934021.1:n.1398G>C
XR_934022.1:n.1398G>C
XR_934023.1:n.1398G>C
XM_006721516.3:c.1291G>C	XP_006721579.2:p.Asp431His
XM_011523829.2:c.1291G>C	XP_011522131.1:p.Asp431His
XM_011523830.2:c.1291G>C	XP_011522132.1:p.Asp431His
XM_024450741.1:c.1291G>C	XP_024306509.1:p.Asp431His
XR_934021.2:n.1350G>C
XR_934022.2:n.1350G>C
XR_934023.2:n.1350G>C
NM_000018.4:c.1291G>C MANE Select	NP_000009.1:p.Asp431His
NM_001033859.3:c.1225G>C	NP_001029031.1:p.Asp409His
NM_001270447.2:c.1360G>C	NP_001257376.1:p.Asp454His
NM_001270448.2:c.1063G>C	NP_001257377.1:p.Asp355His