Canonical Allele Identifier: CA397726020

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128295A>C (hg19) ; chr17:g.7224976A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224976A>C , CM000679.2:g.7224976A>C	GRCh38
NC_000017.10:g.7128295A>C , CM000679.1:g.7128295A>C	GRCh37
NC_000017.9:g.7069019A>C	NCBI36
NG_007975.1:g.10143A>C
NG_008391.2:g.75T>G
NG_033038.1:g.14569T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1847A>C MANE Select	ENSP00000349297.5:p.Glu616Ala
ENST00000322910.9:c.*1802A>C	ENSP00000325395.5:n.*1802A>C
ENST00000350303.9:c.1781A>C	ENSP00000344152.5:p.Glu594Ala
ENST00000356839.9:c.1847A>C	ENSP00000349297.5:p.Glu616Ala
ENST00000542255.6:c.726A>C
ENST00000543245.6:c.1916A>C	ENSP00000438689.2:p.Glu639Ala
ENST00000578033.1:n.272A>C
ENST00000578319.5:n.428A>C
ENST00000578711.1:n.1472A>C
ENST00000578809.5:n.419A>C
ENST00000579425.5:n.963A>C
ENST00000579546.1:c.582A>C
ENST00000583848.5:c.213A>C	ENSP00000466487.1:n.213A>C
ENST00000583850.5:n.618A>C
ENST00000583858.5:c.778A>C
NM_000018.3:c.1847A>C	NP_000009.1:p.Glu616Ala
NM_001033859.2:c.1781A>C	NP_001029031.1:p.Glu594Ala
NM_001270447.1:c.1916A>C	NP_001257376.1:p.Glu639Ala
NM_001270448.1:c.1619A>C	NP_001257377.1:p.Glu540Ala
XM_006721516.2:c.1868A>C	XP_006721579.2:p.Glu623Ala
XM_011523829.1:c.1766A>C	XP_011522131.1:p.Glu589Ala
XM_011523830.1:c.1745A>C	XP_011522132.1:p.Glu582Ala
XR_934021.1:n.1950A>C
XR_934022.1:n.1856A>C
XR_934023.1:n.1877A>C
XM_006721516.3:c.1868A>C	XP_006721579.2:p.Glu623Ala
XM_011523829.2:c.1766A>C	XP_011522131.1:p.Glu589Ala
XM_011523830.2:c.1745A>C	XP_011522132.1:p.Glu582Ala
XM_024450741.1:c.1835A>C	XP_024306509.1:p.Glu612Ala
XR_934021.2:n.1902A>C
XR_934022.2:n.1808A>C
XR_934023.2:n.1829A>C
NM_000018.4:c.1847A>C MANE Select	NP_000009.1:p.Glu616Ala
NM_001033859.3:c.1781A>C	NP_001029031.1:p.Glu594Ala
NM_001270447.2:c.1916A>C	NP_001257376.1:p.Glu639Ala
NM_001270448.2:c.1619A>C	NP_001257377.1:p.Glu540Ala