Canonical Allele Identifier: CA397726180

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128367C>G (hg19) ; chr17:g.7225048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225048C>G , CM000679.2:g.7225048C>G	GRCh38
NC_000017.10:g.7128367C>G , CM000679.1:g.7128367C>G	GRCh37
NC_000017.9:g.7069091C>G	NCBI36
NG_007975.1:g.10215C>G
NG_008391.2:g.3G>C
NG_033038.1:g.14497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1919C>G MANE Select	ENSP00000349297.5:p.Ala640Gly
ENST00000322910.9:c.*1874C>G	ENSP00000325395.5:n.*1874C>G
ENST00000350303.9:c.1853C>G	ENSP00000344152.5:p.Ala618Gly
ENST00000356839.9:c.1919C>G	ENSP00000349297.5:p.Ala640Gly
ENST00000542255.6:c.798C>G
ENST00000543245.6:c.1988C>G	ENSP00000438689.2:p.Ala663Gly
ENST00000578033.1:n.344C>G
ENST00000578319.5:n.500C>G
ENST00000578711.1:n.1544C>G
ENST00000578809.5:n.491C>G
ENST00000579425.5:n.1035C>G
ENST00000583848.5:c.285C>G	ENSP00000466487.1:n.285C>G
ENST00000583850.5:n.690C>G
ENST00000583858.5:c.850C>G
NM_000018.3:c.1919C>G	NP_000009.1:p.Ala640Gly
NM_001033859.2:c.1853C>G	NP_001029031.1:p.Ala618Gly
NM_001270447.1:c.1988C>G	NP_001257376.1:p.Ala663Gly
NM_001270448.1:c.1691C>G	NP_001257377.1:p.Ala564Gly
XM_006721516.2:c.1940C>G	XP_006721579.2:p.Ala647Gly
XM_011523829.1:c.1838C>G	XP_011522131.1:p.Ala613Gly
XM_011523830.1:c.1817C>G	XP_011522132.1:p.Ala606Gly
XR_934021.1:n.2022C>G
XR_934022.1:n.1928C>G
XR_934023.1:n.1949C>G
XM_006721516.3:c.1940C>G	XP_006721579.2:p.Ala647Gly
XM_011523829.2:c.1838C>G	XP_011522131.1:p.Ala613Gly
XM_011523830.2:c.1817C>G	XP_011522132.1:p.Ala606Gly
XM_024450741.1:c.1907C>G	XP_024306509.1:p.Ala636Gly
XR_934021.2:n.1974C>G
XR_934022.2:n.1880C>G
XR_934023.2:n.1901C>G
NM_000018.4:c.1919C>G MANE Select	NP_000009.1:p.Ala640Gly
NM_001033859.3:c.1853C>G	NP_001029031.1:p.Ala618Gly
NM_001270447.2:c.1988C>G	NP_001257376.1:p.Ala663Gly
NM_001270448.2:c.1691C>G	NP_001257377.1:p.Ala564Gly