Canonical Allele Identifier: CA497694608

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225088-T-A
• MyVariant Identifiers: chr17:g.7128407T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225088T>A , CM000679.2:g.7225088T>A	GRCh38
NC_000017.10:g.7128407T>A , CM000679.1:g.7128407T>A	GRCh37
NC_000017.9:g.7069131T>A	NCBI36
NG_007975.1:g.10255T>A
NG_033038.1:g.14457A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1959T>A MANE Select	ENSP00000349297.5:p.Leu653=
ENST00000322910.9:c.*1914T>A	ENSP00000325395.5:n.*1914T>A
ENST00000350303.9:c.1893T>A	ENSP00000344152.5:p.Leu631=
ENST00000356839.9:c.1959T>A	ENSP00000349297.5:p.Leu653=
ENST00000542255.6:c.838T>A
ENST00000543245.6:c.2028T>A	ENSP00000438689.2:p.Leu676=
ENST00000578033.1:n.384T>A
ENST00000578319.5:n.540T>A
ENST00000578711.1:n.1584T>A
ENST00000578809.5:n.531T>A
ENST00000579425.5:n.1075T>A
ENST00000583848.5:c.325T>A	ENSP00000466487.1:n.325T>A
ENST00000583850.5:n.730T>A
ENST00000583858.5:c.890T>A
NM_000018.3:c.1959T>A	NP_000009.1:p.Leu653=
NM_001033859.2:c.1893T>A	NP_001029031.1:p.Leu631=
NM_001270447.1:c.2028T>A	NP_001257376.1:p.Leu676=
NM_001270448.1:c.1731T>A	NP_001257377.1:p.Leu577=
XM_006721516.2:c.1980T>A	XP_006721579.2:p.Leu660=
XM_011523829.1:c.1878T>A	XP_011522131.1:p.Leu626=
XM_011523830.1:c.1857T>A	XP_011522132.1:p.Leu619=
XR_934021.1:n.2062T>A
XR_934022.1:n.1968T>A
XR_934023.1:n.1989T>A
XM_006721516.3:c.1980T>A	XP_006721579.2:p.Leu660=
XM_011523829.2:c.1878T>A	XP_011522131.1:p.Leu626=
XM_011523830.2:c.1857T>A	XP_011522132.1:p.Leu619=
XM_024450741.1:c.1947T>A	XP_024306509.1:p.Leu649=
XR_934021.2:n.2014T>A
XR_934022.2:n.1920T>A
XR_934023.2:n.1941T>A
NM_000018.4:c.1959T>A MANE Select	NP_000009.1:p.Leu653=
NM_001033859.3:c.1893T>A	NP_001029031.1:p.Leu631=
NM_001270447.2:c.2028T>A	NP_001257376.1:p.Leu676=
NM_001270448.2:c.1731T>A	NP_001257377.1:p.Leu577=