Canonical Allele Identifier: CA397726107

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128335G>C (hg19) ; chr17:g.7225016G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225016G>C , CM000679.2:g.7225016G>C	GRCh38
NC_000017.10:g.7128335G>C , CM000679.1:g.7128335G>C	GRCh37
NC_000017.9:g.7069059G>C	NCBI36
NG_007975.1:g.10183G>C
NG_008391.2:g.35C>G
NG_033038.1:g.14529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1887G>C MANE Select	ENSP00000349297.5:p.Glu629Asp
ENST00000322910.9:c.*1842G>C	ENSP00000325395.5:n.*1842G>C
ENST00000350303.9:c.1821G>C	ENSP00000344152.5:p.Glu607Asp
ENST00000356839.9:c.1887G>C	ENSP00000349297.5:p.Glu629Asp
ENST00000542255.6:c.766G>C
ENST00000543245.6:c.1956G>C	ENSP00000438689.2:p.Glu652Asp
ENST00000578033.1:n.312G>C
ENST00000578319.5:n.468G>C
ENST00000578711.1:n.1512G>C
ENST00000578809.5:n.459G>C
ENST00000579425.5:n.1003G>C
ENST00000583848.5:c.253G>C	ENSP00000466487.1:n.253G>C
ENST00000583850.5:n.658G>C
ENST00000583858.5:c.818G>C
NM_000018.3:c.1887G>C	NP_000009.1:p.Glu629Asp
NM_001033859.2:c.1821G>C	NP_001029031.1:p.Glu607Asp
NM_001270447.1:c.1956G>C	NP_001257376.1:p.Glu652Asp
NM_001270448.1:c.1659G>C	NP_001257377.1:p.Glu553Asp
XM_006721516.2:c.1908G>C	XP_006721579.2:p.Glu636Asp
XM_011523829.1:c.1806G>C	XP_011522131.1:p.Glu602Asp
XM_011523830.1:c.1785G>C	XP_011522132.1:p.Glu595Asp
XR_934021.1:n.1990G>C
XR_934022.1:n.1896G>C
XR_934023.1:n.1917G>C
XM_006721516.3:c.1908G>C	XP_006721579.2:p.Glu636Asp
XM_011523829.2:c.1806G>C	XP_011522131.1:p.Glu602Asp
XM_011523830.2:c.1785G>C	XP_011522132.1:p.Glu595Asp
XM_024450741.1:c.1875G>C	XP_024306509.1:p.Glu625Asp
XR_934021.2:n.1942G>C
XR_934022.2:n.1848G>C
XR_934023.2:n.1869G>C
NM_000018.4:c.1887G>C MANE Select	NP_000009.1:p.Glu629Asp
NM_001033859.3:c.1821G>C	NP_001029031.1:p.Glu607Asp
NM_001270447.2:c.1956G>C	NP_001257376.1:p.Glu652Asp
NM_001270448.2:c.1659G>C	NP_001257377.1:p.Glu553Asp