Canonical Allele Identifier: CA497694573

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2962542
• ClinVar RCV Id: RCV003825172
• MyVariant Identifiers: chr17:g.7128365G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225046G>A , CM000679.2:g.7225046G>A	GRCh38
NC_000017.10:g.7128365G>A , CM000679.1:g.7128365G>A	GRCh37
NC_000017.9:g.7069089G>A	NCBI36
NG_007975.1:g.10213G>A
NG_008391.2:g.5C>T
NG_033038.1:g.14499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1917G>A MANE Select	ENSP00000349297.5:p.Lys639=
ENST00000322910.9:c.*1872G>A	ENSP00000325395.5:n.*1872G>A
ENST00000350303.9:c.1851G>A	ENSP00000344152.5:p.Lys617=
ENST00000356839.9:c.1917G>A	ENSP00000349297.5:p.Lys639=
ENST00000542255.6:c.796G>A
ENST00000543245.6:c.1986G>A	ENSP00000438689.2:p.Lys662=
ENST00000578033.1:n.342G>A
ENST00000578319.5:n.498G>A
ENST00000578711.1:n.1542G>A
ENST00000578809.5:n.489G>A
ENST00000579425.5:n.1033G>A
ENST00000583848.5:c.283G>A	ENSP00000466487.1:n.283G>A
ENST00000583850.5:n.688G>A
ENST00000583858.5:c.848G>A
NM_000018.3:c.1917G>A	NP_000009.1:p.Lys639=
NM_001033859.2:c.1851G>A	NP_001029031.1:p.Lys617=
NM_001270447.1:c.1986G>A	NP_001257376.1:p.Lys662=
NM_001270448.1:c.1689G>A	NP_001257377.1:p.Lys563=
XM_006721516.2:c.1938G>A	XP_006721579.2:p.Lys646=
XM_011523829.1:c.1836G>A	XP_011522131.1:p.Lys612=
XM_011523830.1:c.1815G>A	XP_011522132.1:p.Lys605=
XR_934021.1:n.2020G>A
XR_934022.1:n.1926G>A
XR_934023.1:n.1947G>A
XM_006721516.3:c.1938G>A	XP_006721579.2:p.Lys646=
XM_011523829.2:c.1836G>A	XP_011522131.1:p.Lys612=
XM_011523830.2:c.1815G>A	XP_011522132.1:p.Lys605=
XM_024450741.1:c.1905G>A	XP_024306509.1:p.Lys635=
XR_934021.2:n.1972G>A
XR_934022.2:n.1878G>A
XR_934023.2:n.1899G>A
NM_000018.4:c.1917G>A MANE Select	NP_000009.1:p.Lys639=
NM_001033859.3:c.1851G>A	NP_001029031.1:p.Lys617=
NM_001270447.2:c.1986G>A	NP_001257376.1:p.Lys662=
NM_001270448.2:c.1689G>A	NP_001257377.1:p.Lys563=