Canonical Allele Identifier: CA397726093

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225010-G-T
• MyVariant Identifiers: chr17:g.7128329G>T (hg19) ; chr17:g.7225010G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225010G>T , CM000679.2:g.7225010G>T	GRCh38
NC_000017.10:g.7128329G>T , CM000679.1:g.7128329G>T	GRCh37
NC_000017.9:g.7069053G>T	NCBI36
NG_007975.1:g.10177G>T
NG_008391.2:g.41C>A
NG_033038.1:g.14535C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1881G>T MANE Select	ENSP00000349297.5:p.Gln627His
ENST00000322910.9:c.*1836G>T	ENSP00000325395.5:n.*1836G>T
ENST00000350303.9:c.1815G>T	ENSP00000344152.5:p.Gln605His
ENST00000356839.9:c.1881G>T	ENSP00000349297.5:p.Gln627His
ENST00000542255.6:c.760G>T
ENST00000543245.6:c.1950G>T	ENSP00000438689.2:p.Gln650His
ENST00000578033.1:n.306G>T
ENST00000578319.5:n.462G>T
ENST00000578711.1:n.1506G>T
ENST00000578809.5:n.453G>T
ENST00000579425.5:n.997G>T
ENST00000583848.5:c.247G>T	ENSP00000466487.1:n.247G>T
ENST00000583850.5:n.652G>T
ENST00000583858.5:c.812G>T
NM_000018.3:c.1881G>T	NP_000009.1:p.Gln627His
NM_001033859.2:c.1815G>T	NP_001029031.1:p.Gln605His
NM_001270447.1:c.1950G>T	NP_001257376.1:p.Gln650His
NM_001270448.1:c.1653G>T	NP_001257377.1:p.Gln551His
XM_006721516.2:c.1902G>T	XP_006721579.2:p.Gln634His
XM_011523829.1:c.1800G>T	XP_011522131.1:p.Gln600His
XM_011523830.1:c.1779G>T	XP_011522132.1:p.Gln593His
XR_934021.1:n.1984G>T
XR_934022.1:n.1890G>T
XR_934023.1:n.1911G>T
XM_006721516.3:c.1902G>T	XP_006721579.2:p.Gln634His
XM_011523829.2:c.1800G>T	XP_011522131.1:p.Gln600His
XM_011523830.2:c.1779G>T	XP_011522132.1:p.Gln593His
XM_024450741.1:c.1869G>T	XP_024306509.1:p.Gln623His
XR_934021.2:n.1936G>T
XR_934022.2:n.1842G>T
XR_934023.2:n.1863G>T
NM_000018.4:c.1881G>T MANE Select	NP_000009.1:p.Gln627His
NM_001033859.3:c.1815G>T	NP_001029031.1:p.Gln605His
NM_001270447.2:c.1950G>T	NP_001257376.1:p.Gln650His
NM_001270448.2:c.1653G>T	NP_001257377.1:p.Gln551His