Canonical Allele Identifier: CA497694383

Gene: ACADVL

Linked Data

• dbSNP Id: rs1597540282
• MyVariant Identifiers: chr17:g.7128164C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224845C>A , CM000679.2:g.7224845C>A	GRCh38
NC_000017.10:g.7128164C>A , CM000679.1:g.7128164C>A	GRCh37
NC_000017.9:g.7068888C>A	NCBI36
NG_007975.1:g.10012C>A
NG_008391.2:g.206G>T
NG_033038.1:g.14700G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1788C>A MANE Select	ENSP00000349297.5:p.Ala596=
ENST00000322910.9:c.*1743C>A	ENSP00000325395.5:n.*1743C>A
ENST00000350303.9:c.1722C>A	ENSP00000344152.5:p.Ala574=
ENST00000356839.9:c.1788C>A	ENSP00000349297.5:p.Ala596=
ENST00000542255.6:c.667C>A
ENST00000543245.6:c.1857C>A	ENSP00000438689.2:p.Ala619=
ENST00000578033.1:n.213C>A
ENST00000578319.5:n.369C>A
ENST00000578711.1:n.1341C>A
ENST00000578809.5:n.360C>A
ENST00000579425.5:n.904C>A
ENST00000579546.1:c.523C>A
ENST00000583848.5:c.154C>A	ENSP00000466487.1:n.154C>A
ENST00000583850.5:n.559C>A
ENST00000583858.5:c.719C>A
NM_000018.3:c.1788C>A	NP_000009.1:p.Ala596=
NM_001033859.2:c.1722C>A	NP_001029031.1:p.Ala574=
NM_001270447.1:c.1857C>A	NP_001257376.1:p.Ala619=
NM_001270448.1:c.1560C>A	NP_001257377.1:p.Ala520=
XM_006721516.2:c.1809C>A	XP_006721579.2:p.Ala603=
XM_011523829.1:c.1707C>A	XP_011522131.1:p.Ala569=
XM_011523830.1:c.1686C>A	XP_011522132.1:p.Ala562=
XR_934021.1:n.1891C>A
XR_934022.1:n.1797C>A
XR_934023.1:n.1818C>A
XM_006721516.3:c.1809C>A	XP_006721579.2:p.Ala603=
XM_011523829.2:c.1707C>A	XP_011522131.1:p.Ala569=
XM_011523830.2:c.1686C>A	XP_011522132.1:p.Ala562=
XM_024450741.1:c.1776C>A	XP_024306509.1:p.Ala592=
XR_934021.2:n.1843C>A
XR_934022.2:n.1749C>A
XR_934023.2:n.1770C>A
NM_000018.4:c.1788C>A MANE Select	NP_000009.1:p.Ala596=
NM_001033859.3:c.1722C>A	NP_001029031.1:p.Ala574=
NM_001270447.2:c.1857C>A	NP_001257376.1:p.Ala619=
NM_001270448.2:c.1560C>A	NP_001257377.1:p.Ala520=