Canonical Allele Identifier: CA497694540

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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