Canonical Allele Identifier: CA287441422

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1195912
• ClinVar RCV Id: RCV001559198
• dbSNP Id: rs931018661
• gnomAD v2: 17-7128329-G-A
• gnomAD v3: 17-7225010-G-A
• gnomAD v4: 17-7225010-G-A
• MyVariant Identifiers: chr17:g.7128329G>A (hg19) ; chr17:g.7225010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225010G>A , CM000679.2:g.7225010G>A	GRCh38
NC_000017.10:g.7128329G>A , CM000679.1:g.7128329G>A	GRCh37
NC_000017.9:g.7069053G>A	NCBI36
NG_007975.1:g.10177G>A
NG_008391.2:g.41C>T
NG_033038.1:g.14535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1881G>A MANE Select	ENSP00000349297.5:p.Gln627=
ENST00000322910.9:c.*1836G>A	ENSP00000325395.5:n.*1836G>A
ENST00000350303.9:c.1815G>A	ENSP00000344152.5:p.Gln605=
ENST00000356839.9:c.1881G>A	ENSP00000349297.5:p.Gln627=
ENST00000542255.6:c.760G>A
ENST00000543245.6:c.1950G>A	ENSP00000438689.2:p.Gln650=
ENST00000578033.1:n.306G>A
ENST00000578319.5:n.462G>A
ENST00000578711.1:n.1506G>A
ENST00000578809.5:n.453G>A
ENST00000579425.5:n.997G>A
ENST00000583848.5:c.247G>A	ENSP00000466487.1:n.247G>A
ENST00000583850.5:n.652G>A
ENST00000583858.5:c.812G>A
NM_000018.3:c.1881G>A	NP_000009.1:p.Gln627=
NM_001033859.2:c.1815G>A	NP_001029031.1:p.Gln605=
NM_001270447.1:c.1950G>A	NP_001257376.1:p.Gln650=
NM_001270448.1:c.1653G>A	NP_001257377.1:p.Gln551=
XM_006721516.2:c.1902G>A	XP_006721579.2:p.Gln634=
XM_011523829.1:c.1800G>A	XP_011522131.1:p.Gln600=
XM_011523830.1:c.1779G>A	XP_011522132.1:p.Gln593=
XR_934021.1:n.1984G>A
XR_934022.1:n.1890G>A
XR_934023.1:n.1911G>A
XM_006721516.3:c.1902G>A	XP_006721579.2:p.Gln634=
XM_011523829.2:c.1800G>A	XP_011522131.1:p.Gln600=
XM_011523830.2:c.1779G>A	XP_011522132.1:p.Gln593=
XM_024450741.1:c.1869G>A	XP_024306509.1:p.Gln623=
XR_934021.2:n.1936G>A
XR_934022.2:n.1842G>A
XR_934023.2:n.1863G>A
NM_000018.4:c.1881G>A MANE Select	NP_000009.1:p.Gln627=
NM_001033859.3:c.1815G>A	NP_001029031.1:p.Gln605=
NM_001270447.2:c.1950G>A	NP_001257376.1:p.Gln650=
NM_001270448.2:c.1653G>A	NP_001257377.1:p.Gln551=