Canonical Allele Identifier: CA397726203

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128378C>G (hg19) ; chr17:g.7225059C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225059C>G , CM000679.2:g.7225059C>G	GRCh38
NC_000017.10:g.7128378C>G , CM000679.1:g.7128378C>G	GRCh37
NC_000017.9:g.7069102C>G	NCBI36
NG_007975.1:g.10226C>G
NG_033038.1:g.14486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1930C>G MANE Select	ENSP00000349297.5:p.Arg644Gly
ENST00000322910.9:c.*1885C>G	ENSP00000325395.5:n.*1885C>G
ENST00000350303.9:c.1864C>G	ENSP00000344152.5:p.Arg622Gly
ENST00000356839.9:c.1930C>G	ENSP00000349297.5:p.Arg644Gly
ENST00000542255.6:c.809C>G
ENST00000543245.6:c.1999C>G	ENSP00000438689.2:p.Arg667Gly
ENST00000578033.1:n.355C>G
ENST00000578319.5:n.511C>G
ENST00000578711.1:n.1555C>G
ENST00000578809.5:n.502C>G
ENST00000579425.5:n.1046C>G
ENST00000583848.5:c.296C>G	ENSP00000466487.1:n.296C>G
ENST00000583850.5:n.701C>G
ENST00000583858.5:c.861C>G
NM_000018.3:c.1930C>G	NP_000009.1:p.Arg644Gly
NM_001033859.2:c.1864C>G	NP_001029031.1:p.Arg622Gly
NM_001270447.1:c.1999C>G	NP_001257376.1:p.Arg667Gly
NM_001270448.1:c.1702C>G	NP_001257377.1:p.Arg568Gly
XM_006721516.2:c.1951C>G	XP_006721579.2:p.Arg651Gly
XM_011523829.1:c.1849C>G	XP_011522131.1:p.Arg617Gly
XM_011523830.1:c.1828C>G	XP_011522132.1:p.Arg610Gly
XR_934021.1:n.2033C>G
XR_934022.1:n.1939C>G
XR_934023.1:n.1960C>G
XM_006721516.3:c.1951C>G	XP_006721579.2:p.Arg651Gly
XM_011523829.2:c.1849C>G	XP_011522131.1:p.Arg617Gly
XM_011523830.2:c.1828C>G	XP_011522132.1:p.Arg610Gly
XM_024450741.1:c.1918C>G	XP_024306509.1:p.Arg640Gly
XR_934021.2:n.1985C>G
XR_934022.2:n.1891C>G
XR_934023.2:n.1912C>G
NM_000018.4:c.1930C>G MANE Select	NP_000009.1:p.Arg644Gly
NM_001033859.3:c.1864C>G	NP_001029031.1:p.Arg622Gly
NM_001270447.2:c.1999C>G	NP_001257376.1:p.Arg667Gly
NM_001270448.2:c.1702C>G	NP_001257377.1:p.Arg568Gly