Canonical Allele Identifier: CA397726202

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225058-G-T
• MyVariant Identifiers: chr17:g.7128377G>T (hg19) ; chr17:g.7225058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225058G>T , CM000679.2:g.7225058G>T	GRCh38
NC_000017.10:g.7128377G>T , CM000679.1:g.7128377G>T	GRCh37
NC_000017.9:g.7069101G>T	NCBI36
NG_007975.1:g.10225G>T
NG_033038.1:g.14487C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1929G>T MANE Select	ENSP00000349297.5:p.Glu643Asp
ENST00000322910.9:c.*1884G>T	ENSP00000325395.5:n.*1884G>T
ENST00000350303.9:c.1863G>T	ENSP00000344152.5:p.Glu621Asp
ENST00000356839.9:c.1929G>T	ENSP00000349297.5:p.Glu643Asp
ENST00000542255.6:c.808G>T
ENST00000543245.6:c.1998G>T	ENSP00000438689.2:p.Glu666Asp
ENST00000578033.1:n.354G>T
ENST00000578319.5:n.510G>T
ENST00000578711.1:n.1554G>T
ENST00000578809.5:n.501G>T
ENST00000579425.5:n.1045G>T
ENST00000583848.5:c.295G>T	ENSP00000466487.1:n.295G>T
ENST00000583850.5:n.700G>T
ENST00000583858.5:c.860G>T
NM_000018.3:c.1929G>T	NP_000009.1:p.Glu643Asp
NM_001033859.2:c.1863G>T	NP_001029031.1:p.Glu621Asp
NM_001270447.1:c.1998G>T	NP_001257376.1:p.Glu666Asp
NM_001270448.1:c.1701G>T	NP_001257377.1:p.Glu567Asp
XM_006721516.2:c.1950G>T	XP_006721579.2:p.Glu650Asp
XM_011523829.1:c.1848G>T	XP_011522131.1:p.Glu616Asp
XM_011523830.1:c.1827G>T	XP_011522132.1:p.Glu609Asp
XR_934021.1:n.2032G>T
XR_934022.1:n.1938G>T
XR_934023.1:n.1959G>T
XM_006721516.3:c.1950G>T	XP_006721579.2:p.Glu650Asp
XM_011523829.2:c.1848G>T	XP_011522131.1:p.Glu616Asp
XM_011523830.2:c.1827G>T	XP_011522132.1:p.Glu609Asp
XM_024450741.1:c.1917G>T	XP_024306509.1:p.Glu639Asp
XR_934021.2:n.1984G>T
XR_934022.2:n.1890G>T
XR_934023.2:n.1911G>T
NM_000018.4:c.1929G>T MANE Select	NP_000009.1:p.Glu643Asp
NM_001033859.3:c.1863G>T	NP_001029031.1:p.Glu621Asp
NM_001270447.2:c.1998G>T	NP_001257376.1:p.Glu666Asp
NM_001270448.2:c.1701G>T	NP_001257377.1:p.Glu567Asp