Canonical Allele Identifier: CA497694576

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225049-C-T
• MyVariant Identifiers: chr17:g.7128368C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225049C>T , CM000679.2:g.7225049C>T	GRCh38
NC_000017.10:g.7128368C>T , CM000679.1:g.7128368C>T	GRCh37
NC_000017.9:g.7069092C>T	NCBI36
NG_007975.1:g.10216C>T
NG_008391.2:g.2G>A
NG_033038.1:g.14496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1920C>T MANE Select	ENSP00000349297.5:p.Ala640=
ENST00000322910.9:c.*1875C>T	ENSP00000325395.5:n.*1875C>T
ENST00000350303.9:c.1854C>T	ENSP00000344152.5:p.Ala618=
ENST00000356839.9:c.1920C>T	ENSP00000349297.5:p.Ala640=
ENST00000542255.6:c.799C>T
ENST00000543245.6:c.1989C>T	ENSP00000438689.2:p.Ala663=
ENST00000578033.1:n.345C>T
ENST00000578319.5:n.501C>T
ENST00000578711.1:n.1545C>T
ENST00000578809.5:n.492C>T
ENST00000579425.5:n.1036C>T
ENST00000583848.5:c.286C>T	ENSP00000466487.1:n.286C>T
ENST00000583850.5:n.691C>T
ENST00000583858.5:c.851C>T
NM_000018.3:c.1920C>T	NP_000009.1:p.Ala640=
NM_001033859.2:c.1854C>T	NP_001029031.1:p.Ala618=
NM_001270447.1:c.1989C>T	NP_001257376.1:p.Ala663=
NM_001270448.1:c.1692C>T	NP_001257377.1:p.Ala564=
XM_006721516.2:c.1941C>T	XP_006721579.2:p.Ala647=
XM_011523829.1:c.1839C>T	XP_011522131.1:p.Ala613=
XM_011523830.1:c.1818C>T	XP_011522132.1:p.Ala606=
XR_934021.1:n.2023C>T
XR_934022.1:n.1929C>T
XR_934023.1:n.1950C>T
XM_006721516.3:c.1941C>T	XP_006721579.2:p.Ala647=
XM_011523829.2:c.1839C>T	XP_011522131.1:p.Ala613=
XM_011523830.2:c.1818C>T	XP_011522132.1:p.Ala606=
XM_024450741.1:c.1908C>T	XP_024306509.1:p.Ala636=
XR_934021.2:n.1975C>T
XR_934022.2:n.1881C>T
XR_934023.2:n.1902C>T
NM_000018.4:c.1920C>T MANE Select	NP_000009.1:p.Ala640=
NM_001033859.3:c.1854C>T	NP_001029031.1:p.Ala618=
NM_001270447.2:c.1989C>T	NP_001257376.1:p.Ala663=
NM_001270448.2:c.1692C>T	NP_001257377.1:p.Ala564=