Canonical Allele Identifier: CA397725080

Gene: ACADVL

Linked Data

• dbSNP Id: rs1251092614
• gnomAD v2: 17-7127378-A-G
• MyVariant Identifiers: chr17:g.7127378A>G (hg19) ; chr17:g.7224059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224059A>G , CM000679.2:g.7224059A>G	GRCh38
NC_000017.10:g.7127378A>G , CM000679.1:g.7127378A>G	GRCh37
NC_000017.9:g.7068102A>G	NCBI36
NG_007975.1:g.9226A>G
NG_008391.2:g.992T>C
NG_033038.1:g.15486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1424A>G MANE Select	ENSP00000349297.5:p.Gln475Arg
ENST00000322910.9:c.*1379A>G	ENSP00000325395.5:n.*1379A>G
ENST00000350303.9:c.1358A>G	ENSP00000344152.5:p.Gln453Arg
ENST00000356839.9:c.1424A>G	ENSP00000349297.5:p.Gln475Arg
ENST00000542255.6:c.282A>G
ENST00000543245.6:c.1493A>G	ENSP00000438689.2:p.Gln498Arg
ENST00000578711.1:n.555A>G
ENST00000579425.5:n.540A>G
ENST00000579546.1:c.261A>G
ENST00000579894.5:n.135A>G
ENST00000583074.5:n.143A>G
ENST00000583850.5:n.199A>G
ENST00000583858.5:c.453A>G
ENST00000585203.6:n.615A>G
NM_000018.3:c.1424A>G	NP_000009.1:p.Gln475Arg
NM_001033859.2:c.1358A>G	NP_001029031.1:p.Gln453Arg
NM_001270447.1:c.1493A>G	NP_001257376.1:p.Gln498Arg
NM_001270448.1:c.1196A>G	NP_001257377.1:p.Gln399Arg
XM_006721516.2:c.1424A>G	XP_006721579.2:p.Gln475Arg
XM_011523829.1:c.1424A>G	XP_011522131.1:p.Gln475Arg
XM_011523830.1:c.1424A>G	XP_011522132.1:p.Gln475Arg
XR_934021.1:n.1531A>G
XR_934022.1:n.1531A>G
XR_934023.1:n.1531A>G
XM_006721516.3:c.1424A>G	XP_006721579.2:p.Gln475Arg
XM_011523829.2:c.1424A>G	XP_011522131.1:p.Gln475Arg
XM_011523830.2:c.1424A>G	XP_011522132.1:p.Gln475Arg
XM_024450741.1:c.1424A>G	XP_024306509.1:p.Gln475Arg
XR_934021.2:n.1483A>G
XR_934022.2:n.1483A>G
XR_934023.2:n.1483A>G
NM_000018.4:c.1424A>G MANE Select	NP_000009.1:p.Gln475Arg
NM_001033859.3:c.1358A>G	NP_001029031.1:p.Gln453Arg
NM_001270447.2:c.1493A>G	NP_001257376.1:p.Gln498Arg
NM_001270448.2:c.1196A>G	NP_001257377.1:p.Gln399Arg