Canonical Allele Identifier: CA397726186

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128370T>A (hg19) ; chr17:g.7225051T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225051T>A , CM000679.2:g.7225051T>A	GRCh38
NC_000017.10:g.7128370T>A , CM000679.1:g.7128370T>A	GRCh37
NC_000017.9:g.7069094T>A	NCBI36
NG_007975.1:g.10218T>A
NG_033038.1:g.14494A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1922T>A MANE Select	ENSP00000349297.5:p.Leu641Ter
ENST00000322910.9:c.*1877T>A	ENSP00000325395.5:n.*1877T>A
ENST00000350303.9:c.1856T>A	ENSP00000344152.5:p.Leu619Ter
ENST00000356839.9:c.1922T>A	ENSP00000349297.5:p.Leu641Ter
ENST00000542255.6:c.801T>A
ENST00000543245.6:c.1991T>A	ENSP00000438689.2:p.Leu664Ter
ENST00000578033.1:n.347T>A
ENST00000578319.5:n.503T>A
ENST00000578711.1:n.1547T>A
ENST00000578809.5:n.494T>A
ENST00000579425.5:n.1038T>A
ENST00000583848.5:c.288T>A	ENSP00000466487.1:n.288T>A
ENST00000583850.5:n.693T>A
ENST00000583858.5:c.853T>A
NM_000018.3:c.1922T>A	NP_000009.1:p.Leu641Ter
NM_001033859.2:c.1856T>A	NP_001029031.1:p.Leu619Ter
NM_001270447.1:c.1991T>A	NP_001257376.1:p.Leu664Ter
NM_001270448.1:c.1694T>A	NP_001257377.1:p.Leu565Ter
XM_006721516.2:c.1943T>A	XP_006721579.2:p.Leu648Ter
XM_011523829.1:c.1841T>A	XP_011522131.1:p.Leu614Ter
XM_011523830.1:c.1820T>A	XP_011522132.1:p.Leu607Ter
XR_934021.1:n.2025T>A
XR_934022.1:n.1931T>A
XR_934023.1:n.1952T>A
XM_006721516.3:c.1943T>A	XP_006721579.2:p.Leu648Ter
XM_011523829.2:c.1841T>A	XP_011522131.1:p.Leu614Ter
XM_011523830.2:c.1820T>A	XP_011522132.1:p.Leu607Ter
XM_024450741.1:c.1910T>A	XP_024306509.1:p.Leu637Ter
XR_934021.2:n.1977T>A
XR_934022.2:n.1883T>A
XR_934023.2:n.1904T>A
NM_000018.4:c.1922T>A MANE Select	NP_000009.1:p.Leu641Ter
NM_001033859.3:c.1856T>A	NP_001029031.1:p.Leu619Ter
NM_001270447.2:c.1991T>A	NP_001257376.1:p.Leu664Ter
NM_001270448.2:c.1694T>A	NP_001257377.1:p.Leu565Ter