Canonical Allele Identifier: CA497694539

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128299C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224980C>G , CM000679.2:g.7224980C>G	GRCh38
NC_000017.10:g.7128299C>G , CM000679.1:g.7128299C>G	GRCh37
NC_000017.9:g.7069023C>G	NCBI36
NG_007975.1:g.10147C>G
NG_008391.2:g.71G>C
NG_033038.1:g.14565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1851C>G MANE Select	ENSP00000349297.5:p.Gly617=
ENST00000322910.9:c.*1806C>G	ENSP00000325395.5:n.*1806C>G
ENST00000350303.9:c.1785C>G	ENSP00000344152.5:p.Gly595=
ENST00000356839.9:c.1851C>G	ENSP00000349297.5:p.Gly617=
ENST00000542255.6:c.730C>G
ENST00000543245.6:c.1920C>G	ENSP00000438689.2:p.Gly640=
ENST00000578033.1:n.276C>G
ENST00000578319.5:n.432C>G
ENST00000578711.1:n.1476C>G
ENST00000578809.5:n.423C>G
ENST00000579425.5:n.967C>G
ENST00000583848.5:c.217C>G	ENSP00000466487.1:n.217C>G
ENST00000583850.5:n.622C>G
ENST00000583858.5:c.782C>G
NM_000018.3:c.1851C>G	NP_000009.1:p.Gly617=
NM_001033859.2:c.1785C>G	NP_001029031.1:p.Gly595=
NM_001270447.1:c.1920C>G	NP_001257376.1:p.Gly640=
NM_001270448.1:c.1623C>G	NP_001257377.1:p.Gly541=
XM_006721516.2:c.1872C>G	XP_006721579.2:p.Gly624=
XM_011523829.1:c.1770C>G	XP_011522131.1:p.Gly590=
XM_011523830.1:c.1749C>G	XP_011522132.1:p.Gly583=
XR_934021.1:n.1954C>G
XR_934022.1:n.1860C>G
XR_934023.1:n.1881C>G
XM_006721516.3:c.1872C>G	XP_006721579.2:p.Gly624=
XM_011523829.2:c.1770C>G	XP_011522131.1:p.Gly590=
XM_011523830.2:c.1749C>G	XP_011522132.1:p.Gly583=
XM_024450741.1:c.1839C>G	XP_024306509.1:p.Gly613=
XR_934021.2:n.1906C>G
XR_934022.2:n.1812C>G
XR_934023.2:n.1833C>G
NM_000018.4:c.1851C>G MANE Select	NP_000009.1:p.Gly617=
NM_001033859.3:c.1785C>G	NP_001029031.1:p.Gly595=
NM_001270447.2:c.1920C>G	NP_001257376.1:p.Gly640=
NM_001270448.2:c.1623C>G	NP_001257377.1:p.Gly541=