Canonical Allele Identifier: CA397726192

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1925T>A MANE Select	ENSP00000349297.5:p.Val642Glu
ENST00000322910.9:c.*1880T>A	ENSP00000325395.5:n.*1880T>A
ENST00000350303.9:c.1859T>A	ENSP00000344152.5:p.Val620Glu
ENST00000356839.9:c.1925T>A	ENSP00000349297.5:p.Val642Glu
ENST00000542255.6:c.804T>A
ENST00000543245.6:c.1994T>A	ENSP00000438689.2:p.Val665Glu
ENST00000578033.1:n.350T>A
ENST00000578319.5:n.506T>A
ENST00000578711.1:n.1550T>A
ENST00000578809.5:n.497T>A
ENST00000579425.5:n.1041T>A
ENST00000583848.5:c.291T>A	ENSP00000466487.1:n.291T>A
ENST00000583850.5:n.696T>A
ENST00000583858.5:c.856T>A
NM_000018.3:c.1925T>A	NP_000009.1:p.Val642Glu
NM_001033859.2:c.1859T>A	NP_001029031.1:p.Val620Glu
NM_001270447.1:c.1994T>A	NP_001257376.1:p.Val665Glu
NM_001270448.1:c.1697T>A	NP_001257377.1:p.Val566Glu
XM_006721516.2:c.1946T>A	XP_006721579.2:p.Val649Glu
XM_011523829.1:c.1844T>A	XP_011522131.1:p.Val615Glu
XM_011523830.1:c.1823T>A	XP_011522132.1:p.Val608Glu
XR_934021.1:n.2028T>A
XR_934022.1:n.1934T>A
XR_934023.1:n.1955T>A
XM_006721516.3:c.1946T>A	XP_006721579.2:p.Val649Glu
XM_011523829.2:c.1844T>A	XP_011522131.1:p.Val615Glu
XM_011523830.2:c.1823T>A	XP_011522132.1:p.Val608Glu
XM_024450741.1:c.1913T>A	XP_024306509.1:p.Val638Glu
XR_934021.2:n.1980T>A
XR_934022.2:n.1886T>A
XR_934023.2:n.1907T>A
NM_000018.4:c.1925T>A MANE Select	NP_000009.1:p.Val642Glu
NM_001033859.3:c.1859T>A	NP_001029031.1:p.Val620Glu
NM_001270447.2:c.1994T>A	NP_001257376.1:p.Val665Glu
NM_001270448.2:c.1697T>A	NP_001257377.1:p.Val566Glu