Canonical Allele Identifier: CA497694592

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1613207
• ClinVar RCV Id: RCV002171156
• dbSNP Id: rs2142991254
• MyVariant Identifiers: chr17:g.7128389G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225070G>A , CM000679.2:g.7225070G>A	GRCh38
NC_000017.10:g.7128389G>A , CM000679.1:g.7128389G>A	GRCh37
NC_000017.9:g.7069113G>A	NCBI36
NG_007975.1:g.10237G>A
NG_033038.1:g.14475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1941G>A MANE Select	ENSP00000349297.5:p.Val647=
ENST00000322910.9:c.*1896G>A	ENSP00000325395.5:n.*1896G>A
ENST00000350303.9:c.1875G>A	ENSP00000344152.5:p.Val625=
ENST00000356839.9:c.1941G>A	ENSP00000349297.5:p.Val647=
ENST00000542255.6:c.820G>A
ENST00000543245.6:c.2010G>A	ENSP00000438689.2:p.Val670=
ENST00000578033.1:n.366G>A
ENST00000578319.5:n.522G>A
ENST00000578711.1:n.1566G>A
ENST00000578809.5:n.513G>A
ENST00000579425.5:n.1057G>A
ENST00000583848.5:c.307G>A	ENSP00000466487.1:n.307G>A
ENST00000583850.5:n.712G>A
ENST00000583858.5:c.872G>A
NM_000018.3:c.1941G>A	NP_000009.1:p.Val647=
NM_001033859.2:c.1875G>A	NP_001029031.1:p.Val625=
NM_001270447.1:c.2010G>A	NP_001257376.1:p.Val670=
NM_001270448.1:c.1713G>A	NP_001257377.1:p.Val571=
XM_006721516.2:c.1962G>A	XP_006721579.2:p.Val654=
XM_011523829.1:c.1860G>A	XP_011522131.1:p.Val620=
XM_011523830.1:c.1839G>A	XP_011522132.1:p.Val613=
XR_934021.1:n.2044G>A
XR_934022.1:n.1950G>A
XR_934023.1:n.1971G>A
XM_006721516.3:c.1962G>A	XP_006721579.2:p.Val654=
XM_011523829.2:c.1860G>A	XP_011522131.1:p.Val620=
XM_011523830.2:c.1839G>A	XP_011522132.1:p.Val613=
XM_024450741.1:c.1929G>A	XP_024306509.1:p.Val643=
XR_934021.2:n.1996G>A
XR_934022.2:n.1902G>A
XR_934023.2:n.1923G>A
NM_000018.4:c.1941G>A MANE Select	NP_000009.1:p.Val647=
NM_001033859.3:c.1875G>A	NP_001029031.1:p.Val625=
NM_001270447.2:c.2010G>A	NP_001257376.1:p.Val670=
NM_001270448.2:c.1713G>A	NP_001257377.1:p.Val571=