Canonical Allele Identifier: CA397726227

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128391T>G (hg19) ; chr17:g.7225072T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225072T>G , CM000679.2:g.7225072T>G	GRCh38
NC_000017.10:g.7128391T>G , CM000679.1:g.7128391T>G	GRCh37
NC_000017.9:g.7069115T>G	NCBI36
NG_007975.1:g.10239T>G
NG_033038.1:g.14473A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1943T>G MANE Select	ENSP00000349297.5:p.Val648Gly
ENST00000322910.9:c.*1898T>G	ENSP00000325395.5:n.*1898T>G
ENST00000350303.9:c.1877T>G	ENSP00000344152.5:p.Val626Gly
ENST00000356839.9:c.1943T>G	ENSP00000349297.5:p.Val648Gly
ENST00000542255.6:c.822T>G
ENST00000543245.6:c.2012T>G	ENSP00000438689.2:p.Val671Gly
ENST00000578033.1:n.368T>G
ENST00000578319.5:n.524T>G
ENST00000578711.1:n.1568T>G
ENST00000578809.5:n.515T>G
ENST00000579425.5:n.1059T>G
ENST00000583848.5:c.309T>G	ENSP00000466487.1:n.309T>G
ENST00000583850.5:n.714T>G
ENST00000583858.5:c.874T>G
NM_000018.3:c.1943T>G	NP_000009.1:p.Val648Gly
NM_001033859.2:c.1877T>G	NP_001029031.1:p.Val626Gly
NM_001270447.1:c.2012T>G	NP_001257376.1:p.Val671Gly
NM_001270448.1:c.1715T>G	NP_001257377.1:p.Val572Gly
XM_006721516.2:c.1964T>G	XP_006721579.2:p.Val655Gly
XM_011523829.1:c.1862T>G	XP_011522131.1:p.Val621Gly
XM_011523830.1:c.1841T>G	XP_011522132.1:p.Val614Gly
XR_934021.1:n.2046T>G
XR_934022.1:n.1952T>G
XR_934023.1:n.1973T>G
XM_006721516.3:c.1964T>G	XP_006721579.2:p.Val655Gly
XM_011523829.2:c.1862T>G	XP_011522131.1:p.Val621Gly
XM_011523830.2:c.1841T>G	XP_011522132.1:p.Val614Gly
XM_024450741.1:c.1931T>G	XP_024306509.1:p.Val644Gly
XR_934021.2:n.1998T>G
XR_934022.2:n.1904T>G
XR_934023.2:n.1925T>G
NM_000018.4:c.1943T>G MANE Select	NP_000009.1:p.Val648Gly
NM_001033859.3:c.1877T>G	NP_001029031.1:p.Val626Gly
NM_001270447.2:c.2012T>G	NP_001257376.1:p.Val671Gly
NM_001270448.2:c.1715T>G	NP_001257377.1:p.Val572Gly