Canonical Allele Identifier: CA8338293

Gene: ACADVL

Linked Data

• dbSNP Id: rs748274785
• ExAC: 17:7128279 G / A
• gnomAD v2: 17-7128279-G-A
• gnomAD v4: 17-7224960-G-A
• COSMIC: COSM5031575
• MyVariant Identifiers: chr17:g.7128279G>A (hg19) ; chr17:g.7224960G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224960G>A , CM000679.2:g.7224960G>A	GRCh38
NC_000017.10:g.7128279G>A , CM000679.1:g.7128279G>A	GRCh37
NC_000017.9:g.7069003G>A	NCBI36
NG_007975.1:g.10127G>A
NG_008391.2:g.91C>T
NG_033038.1:g.14585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1831G>A MANE Select	ENSP00000349297.5:p.Ala611Thr
ENST00000322910.9:c.*1786G>A	ENSP00000325395.5:n.*1786G>A
ENST00000350303.9:c.1765G>A	ENSP00000344152.5:p.Ala589Thr
ENST00000356839.9:c.1831G>A	ENSP00000349297.5:p.Ala611Thr
ENST00000542255.6:c.710G>A
ENST00000543245.6:c.1900G>A	ENSP00000438689.2:p.Ala634Thr
ENST00000578033.1:n.256G>A
ENST00000578319.5:n.412G>A
ENST00000578711.1:n.1456G>A
ENST00000578809.5:n.403G>A
ENST00000579425.5:n.947G>A
ENST00000579546.1:c.566G>A
ENST00000583848.5:c.197G>A	ENSP00000466487.1:n.197G>A
ENST00000583850.5:n.602G>A
ENST00000583858.5:c.762G>A
NM_000018.3:c.1831G>A	NP_000009.1:p.Ala611Thr
NM_001033859.2:c.1765G>A	NP_001029031.1:p.Ala589Thr
NM_001270447.1:c.1900G>A	NP_001257376.1:p.Ala634Thr
NM_001270448.1:c.1603G>A	NP_001257377.1:p.Ala535Thr
XM_006721516.2:c.1852G>A	XP_006721579.2:p.Ala618Thr
XM_011523829.1:c.1750G>A	XP_011522131.1:p.Ala584Thr
XM_011523830.1:c.1729G>A	XP_011522132.1:p.Ala577Thr
XR_934021.1:n.1934G>A
XR_934022.1:n.1840G>A
XR_934023.1:n.1861G>A
XM_006721516.3:c.1852G>A	XP_006721579.2:p.Ala618Thr
XM_011523829.2:c.1750G>A	XP_011522131.1:p.Ala584Thr
XM_011523830.2:c.1729G>A	XP_011522132.1:p.Ala577Thr
XM_024450741.1:c.1819G>A	XP_024306509.1:p.Ala607Thr
XR_934021.2:n.1886G>A
XR_934022.2:n.1792G>A
XR_934023.2:n.1813G>A
NM_000018.4:c.1831G>A MANE Select	NP_000009.1:p.Ala611Thr
NM_001033859.3:c.1765G>A	NP_001029031.1:p.Ala589Thr
NM_001270447.2:c.1900G>A	NP_001257376.1:p.Ala634Thr
NM_001270448.2:c.1603G>A	NP_001257377.1:p.Ala535Thr