Canonical Allele Identifier: CA497694590

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128386T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225067T>G , CM000679.2:g.7225067T>G	GRCh38
NC_000017.10:g.7128386T>G , CM000679.1:g.7128386T>G	GRCh37
NC_000017.9:g.7069110T>G	NCBI36
NG_007975.1:g.10234T>G
NG_033038.1:g.14478A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1938T>G MANE Select	ENSP00000349297.5:p.Gly646=
ENST00000322910.9:c.*1893T>G	ENSP00000325395.5:n.*1893T>G
ENST00000350303.9:c.1872T>G	ENSP00000344152.5:p.Gly624=
ENST00000356839.9:c.1938T>G	ENSP00000349297.5:p.Gly646=
ENST00000542255.6:c.817T>G
ENST00000543245.6:c.2007T>G	ENSP00000438689.2:p.Gly669=
ENST00000578033.1:n.363T>G
ENST00000578319.5:n.519T>G
ENST00000578711.1:n.1563T>G
ENST00000578809.5:n.510T>G
ENST00000579425.5:n.1054T>G
ENST00000583848.5:c.304T>G	ENSP00000466487.1:n.304T>G
ENST00000583850.5:n.709T>G
ENST00000583858.5:c.869T>G
NM_000018.3:c.1938T>G	NP_000009.1:p.Gly646=
NM_001033859.2:c.1872T>G	NP_001029031.1:p.Gly624=
NM_001270447.1:c.2007T>G	NP_001257376.1:p.Gly669=
NM_001270448.1:c.1710T>G	NP_001257377.1:p.Gly570=
XM_006721516.2:c.1959T>G	XP_006721579.2:p.Gly653=
XM_011523829.1:c.1857T>G	XP_011522131.1:p.Gly619=
XM_011523830.1:c.1836T>G	XP_011522132.1:p.Gly612=
XR_934021.1:n.2041T>G
XR_934022.1:n.1947T>G
XR_934023.1:n.1968T>G
XM_006721516.3:c.1959T>G	XP_006721579.2:p.Gly653=
XM_011523829.2:c.1857T>G	XP_011522131.1:p.Gly619=
XM_011523830.2:c.1836T>G	XP_011522132.1:p.Gly612=
XM_024450741.1:c.1926T>G	XP_024306509.1:p.Gly642=
XR_934021.2:n.1993T>G
XR_934022.2:n.1899T>G
XR_934023.2:n.1920T>G
NM_000018.4:c.1938T>G MANE Select	NP_000009.1:p.Gly646=
NM_001033859.3:c.1872T>G	NP_001029031.1:p.Gly624=
NM_001270447.2:c.2007T>G	NP_001257376.1:p.Gly669=
NM_001270448.2:c.1710T>G	NP_001257377.1:p.Gly570=