Canonical Allele Identifier: CA397726208

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225062-G-T
• MyVariant Identifiers: chr17:g.7128381G>T (hg19) ; chr17:g.7225062G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225062G>T , CM000679.2:g.7225062G>T	GRCh38
NC_000017.10:g.7128381G>T , CM000679.1:g.7128381G>T	GRCh37
NC_000017.9:g.7069105G>T	NCBI36
NG_007975.1:g.10229G>T
NG_033038.1:g.14483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1933G>T MANE Select	ENSP00000349297.5:p.Gly645Cys
ENST00000322910.9:c.*1888G>T	ENSP00000325395.5:n.*1888G>T
ENST00000350303.9:c.1867G>T	ENSP00000344152.5:p.Gly623Cys
ENST00000356839.9:c.1933G>T	ENSP00000349297.5:p.Gly645Cys
ENST00000542255.6:c.812G>T
ENST00000543245.6:c.2002G>T	ENSP00000438689.2:p.Gly668Cys
ENST00000578033.1:n.358G>T
ENST00000578319.5:n.514G>T
ENST00000578711.1:n.1558G>T
ENST00000578809.5:n.505G>T
ENST00000579425.5:n.1049G>T
ENST00000583848.5:c.299G>T	ENSP00000466487.1:n.299G>T
ENST00000583850.5:n.704G>T
ENST00000583858.5:c.864G>T
NM_000018.3:c.1933G>T	NP_000009.1:p.Gly645Cys
NM_001033859.2:c.1867G>T	NP_001029031.1:p.Gly623Cys
NM_001270447.1:c.2002G>T	NP_001257376.1:p.Gly668Cys
NM_001270448.1:c.1705G>T	NP_001257377.1:p.Gly569Cys
XM_006721516.2:c.1954G>T	XP_006721579.2:p.Gly652Cys
XM_011523829.1:c.1852G>T	XP_011522131.1:p.Gly618Cys
XM_011523830.1:c.1831G>T	XP_011522132.1:p.Gly611Cys
XR_934021.1:n.2036G>T
XR_934022.1:n.1942G>T
XR_934023.1:n.1963G>T
XM_006721516.3:c.1954G>T	XP_006721579.2:p.Gly652Cys
XM_011523829.2:c.1852G>T	XP_011522131.1:p.Gly618Cys
XM_011523830.2:c.1831G>T	XP_011522132.1:p.Gly611Cys
XM_024450741.1:c.1921G>T	XP_024306509.1:p.Gly641Cys
XR_934021.2:n.1988G>T
XR_934022.2:n.1894G>T
XR_934023.2:n.1915G>T
NM_000018.4:c.1933G>T MANE Select	NP_000009.1:p.Gly645Cys
NM_001033859.3:c.1867G>T	NP_001029031.1:p.Gly623Cys
NM_001270447.2:c.2002G>T	NP_001257376.1:p.Gly668Cys
NM_001270448.2:c.1705G>T	NP_001257377.1:p.Gly569Cys