Canonical Allele Identifier: CA397726273

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1707703
• ClinVar RCV Id: RCV002286682
• MyVariant Identifiers: chr17:g.7128414T>A (hg19) ; chr17:g.7225095T>A (hg38)
• ERepo: CA397726273/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225095T>A , CM000679.2:g.7225095T>A	GRCh38
NC_000017.10:g.7128414T>A , CM000679.1:g.7128414T>A	GRCh37
NC_000017.9:g.7069138T>A	NCBI36
NG_007975.1:g.10262T>A
NG_033038.1:g.14450A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1966T>A MANE Select	ENSP00000349297.5:p.Ter656Arg
ENST00000322910.9:c.*1921T>A	ENSP00000325395.5:n.*1921T>A
ENST00000350303.9:c.1900T>A	ENSP00000344152.5:p.Ter634Arg
ENST00000356839.9:c.1966T>A	ENSP00000349297.5:p.Ter656Arg
ENST00000542255.6:c.845T>A
ENST00000543245.6:c.2035T>A	ENSP00000438689.2:p.Ter679Arg
ENST00000578033.1:n.391T>A
ENST00000578319.5:n.547T>A
ENST00000578711.1:n.1591T>A
ENST00000578809.5:n.538T>A
ENST00000579425.5:n.1082T>A
ENST00000583848.5:c.332T>A	ENSP00000466487.1:n.332T>A
ENST00000583850.5:n.737T>A
ENST00000583858.5:c.897T>A
NM_000018.3:c.1966T>A	NP_000009.1:p.Ter656Arg
NM_001033859.2:c.1900T>A	NP_001029031.1:p.Ter634Arg
NM_001270447.1:c.2035T>A	NP_001257376.1:p.Ter679Arg
NM_001270448.1:c.1738T>A	NP_001257377.1:p.Ter580Arg
XM_006721516.2:c.1987T>A	XP_006721579.2:p.Ter663Arg
XM_011523829.1:c.1885T>A	XP_011522131.1:p.Ter629Arg
XM_011523830.1:c.1864T>A	XP_011522132.1:p.Ter622Arg
XR_934021.1:n.2069T>A
XR_934022.1:n.1975T>A
XR_934023.1:n.1996T>A
XM_006721516.3:c.1987T>A	XP_006721579.2:p.Ter663Arg
XM_011523829.2:c.1885T>A	XP_011522131.1:p.Ter629Arg
XM_011523830.2:c.1864T>A	XP_011522132.1:p.Ter622Arg
XM_024450741.1:c.1954T>A	XP_024306509.1:p.Ter652Arg
XR_934021.2:n.2021T>A
XR_934022.2:n.1927T>A
XR_934023.2:n.1948T>A
NM_000018.4:c.1966T>A MANE Select	NP_000009.1:p.Ter656Arg
NM_001033859.3:c.1900T>A	NP_001029031.1:p.Ter634Arg
NM_001270447.2:c.2035T>A	NP_001257376.1:p.Ter679Arg
NM_001270448.2:c.1738T>A	NP_001257377.1:p.Ter580Arg