Canonical Allele Identifier: CA397726022

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1044592
• ClinVar RCV Id: RCV001348858
• dbSNP Id: rs372886650
• MyVariant Identifiers: chr17:g.7128296G>C (hg19) ; chr17:g.7224977G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224977G>C , CM000679.2:g.7224977G>C	GRCh38
NC_000017.10:g.7128296G>C , CM000679.1:g.7128296G>C	GRCh37
NC_000017.9:g.7069020G>C	NCBI36
NG_007975.1:g.10144G>C
NG_008391.2:g.74C>G
NG_033038.1:g.14568C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1848G>C MANE Select	ENSP00000349297.5:p.Glu616Asp
ENST00000322910.9:c.*1803G>C	ENSP00000325395.5:n.*1803G>C
ENST00000350303.9:c.1782G>C	ENSP00000344152.5:p.Glu594Asp
ENST00000356839.9:c.1848G>C	ENSP00000349297.5:p.Glu616Asp
ENST00000542255.6:c.727G>C
ENST00000543245.6:c.1917G>C	ENSP00000438689.2:p.Glu639Asp
ENST00000578033.1:n.273G>C
ENST00000578319.5:n.429G>C
ENST00000578711.1:n.1473G>C
ENST00000578809.5:n.420G>C
ENST00000579425.5:n.964G>C
ENST00000583848.5:c.214G>C	ENSP00000466487.1:n.214G>C
ENST00000583850.5:n.619G>C
ENST00000583858.5:c.779G>C
NM_000018.3:c.1848G>C	NP_000009.1:p.Glu616Asp
NM_001033859.2:c.1782G>C	NP_001029031.1:p.Glu594Asp
NM_001270447.1:c.1917G>C	NP_001257376.1:p.Glu639Asp
NM_001270448.1:c.1620G>C	NP_001257377.1:p.Glu540Asp
XM_006721516.2:c.1869G>C	XP_006721579.2:p.Glu623Asp
XM_011523829.1:c.1767G>C	XP_011522131.1:p.Glu589Asp
XM_011523830.1:c.1746G>C	XP_011522132.1:p.Glu582Asp
XR_934021.1:n.1951G>C
XR_934022.1:n.1857G>C
XR_934023.1:n.1878G>C
XM_006721516.3:c.1869G>C	XP_006721579.2:p.Glu623Asp
XM_011523829.2:c.1767G>C	XP_011522131.1:p.Glu589Asp
XM_011523830.2:c.1746G>C	XP_011522132.1:p.Glu582Asp
XM_024450741.1:c.1836G>C	XP_024306509.1:p.Glu612Asp
XR_934021.2:n.1903G>C
XR_934022.2:n.1809G>C
XR_934023.2:n.1830G>C
NM_000018.4:c.1848G>C MANE Select	NP_000009.1:p.Glu616Asp
NM_001033859.3:c.1782G>C	NP_001029031.1:p.Glu594Asp
NM_001270447.2:c.1917G>C	NP_001257376.1:p.Glu639Asp
NM_001270448.2:c.1620G>C	NP_001257377.1:p.Glu540Asp