Canonical Allele Identifier: CA397726274

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128414T>G (hg19) ; chr17:g.7225095T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1966T>G MANE Select	ENSP00000349297.5:p.Ter656Gly
ENST00000322910.9:c.*1921T>G	ENSP00000325395.5:n.*1921T>G
ENST00000350303.9:c.1900T>G	ENSP00000344152.5:p.Ter634Gly
ENST00000356839.9:c.1966T>G	ENSP00000349297.5:p.Ter656Gly
ENST00000542255.6:c.845T>G
ENST00000543245.6:c.2035T>G	ENSP00000438689.2:p.Ter679Gly
ENST00000578033.1:n.391T>G
ENST00000578319.5:n.547T>G
ENST00000578711.1:n.1591T>G
ENST00000578809.5:n.538T>G
ENST00000579425.5:n.1082T>G
ENST00000583848.5:c.332T>G	ENSP00000466487.1:n.332T>G
ENST00000583850.5:n.737T>G
ENST00000583858.5:c.897T>G
NM_000018.3:c.1966T>G	NP_000009.1:p.Ter656Gly
NM_001033859.2:c.1900T>G	NP_001029031.1:p.Ter634Gly
NM_001270447.1:c.2035T>G	NP_001257376.1:p.Ter679Gly
NM_001270448.1:c.1738T>G	NP_001257377.1:p.Ter580Gly
XM_006721516.2:c.1987T>G	XP_006721579.2:p.Ter663Gly
XM_011523829.1:c.1885T>G	XP_011522131.1:p.Ter629Gly
XM_011523830.1:c.1864T>G	XP_011522132.1:p.Ter622Gly
XR_934021.1:n.2069T>G
XR_934022.1:n.1975T>G
XR_934023.1:n.1996T>G
XM_006721516.3:c.1987T>G	XP_006721579.2:p.Ter663Gly
XM_011523829.2:c.1885T>G	XP_011522131.1:p.Ter629Gly
XM_011523830.2:c.1864T>G	XP_011522132.1:p.Ter622Gly
XM_024450741.1:c.1954T>G	XP_024306509.1:p.Ter652Gly
XR_934021.2:n.2021T>G
XR_934022.2:n.1927T>G
XR_934023.2:n.1948T>G
NM_000018.4:c.1966T>G MANE Select	NP_000009.1:p.Ter656Gly
NM_001033859.3:c.1900T>G	NP_001029031.1:p.Ter634Gly
NM_001270447.2:c.2035T>G	NP_001257376.1:p.Ter679Gly
NM_001270448.2:c.1738T>G	NP_001257377.1:p.Ter580Gly