Canonical Allele Identifier: CA397726194

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128373T>G (hg19) ; chr17:g.7225054T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225054T>G , CM000679.2:g.7225054T>G	GRCh38
NC_000017.10:g.7128373T>G , CM000679.1:g.7128373T>G	GRCh37
NC_000017.9:g.7069097T>G	NCBI36
NG_007975.1:g.10221T>G
NG_033038.1:g.14491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1925T>G MANE Select	ENSP00000349297.5:p.Val642Gly
ENST00000322910.9:c.*1880T>G	ENSP00000325395.5:n.*1880T>G
ENST00000350303.9:c.1859T>G	ENSP00000344152.5:p.Val620Gly
ENST00000356839.9:c.1925T>G	ENSP00000349297.5:p.Val642Gly
ENST00000542255.6:c.804T>G
ENST00000543245.6:c.1994T>G	ENSP00000438689.2:p.Val665Gly
ENST00000578033.1:n.350T>G
ENST00000578319.5:n.506T>G
ENST00000578711.1:n.1550T>G
ENST00000578809.5:n.497T>G
ENST00000579425.5:n.1041T>G
ENST00000583848.5:c.291T>G	ENSP00000466487.1:n.291T>G
ENST00000583850.5:n.696T>G
ENST00000583858.5:c.856T>G
NM_000018.3:c.1925T>G	NP_000009.1:p.Val642Gly
NM_001033859.2:c.1859T>G	NP_001029031.1:p.Val620Gly
NM_001270447.1:c.1994T>G	NP_001257376.1:p.Val665Gly
NM_001270448.1:c.1697T>G	NP_001257377.1:p.Val566Gly
XM_006721516.2:c.1946T>G	XP_006721579.2:p.Val649Gly
XM_011523829.1:c.1844T>G	XP_011522131.1:p.Val615Gly
XM_011523830.1:c.1823T>G	XP_011522132.1:p.Val608Gly
XR_934021.1:n.2028T>G
XR_934022.1:n.1934T>G
XR_934023.1:n.1955T>G
XM_006721516.3:c.1946T>G	XP_006721579.2:p.Val649Gly
XM_011523829.2:c.1844T>G	XP_011522131.1:p.Val615Gly
XM_011523830.2:c.1823T>G	XP_011522132.1:p.Val608Gly
XM_024450741.1:c.1913T>G	XP_024306509.1:p.Val638Gly
XR_934021.2:n.1980T>G
XR_934022.2:n.1886T>G
XR_934023.2:n.1907T>G
NM_000018.4:c.1925T>G MANE Select	NP_000009.1:p.Val642Gly
NM_001033859.3:c.1859T>G	NP_001029031.1:p.Val620Gly
NM_001270447.2:c.1994T>G	NP_001257376.1:p.Val665Gly
NM_001270448.2:c.1697T>G	NP_001257377.1:p.Val566Gly