Canonical Allele Identifier: CA397724843

Gene: ACADVL

Linked Data

• dbSNP Id: rs1194129121
• gnomAD v2: 17-7127174-G-A
• gnomAD v4: 17-7223855-G-A
• MyVariant Identifiers: chr17:g.7127174G>A (hg19) ; chr17:g.7223855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223855G>A , CM000679.2:g.7223855G>A	GRCh38
NC_000017.10:g.7127174G>A , CM000679.1:g.7127174G>A	GRCh37
NC_000017.9:g.7067898G>A	NCBI36
NG_007975.1:g.9022G>A
NG_008391.2:g.1196C>T
NG_033038.1:g.15690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1312G>A MANE Select	ENSP00000349297.5:p.Gly438Arg
ENST00000322910.9:c.*1267G>A	ENSP00000325395.5:n.*1267G>A
ENST00000350303.9:c.1246G>A	ENSP00000344152.5:p.Gly416Arg
ENST00000356839.9:c.1312G>A	ENSP00000349297.5:p.Gly438Arg
ENST00000542255.6:c.170G>A
ENST00000543245.6:c.1381G>A	ENSP00000438689.2:p.Gly461Arg
ENST00000578711.1:n.351G>A
ENST00000579425.5:n.336G>A
ENST00000579546.1:c.149G>A
ENST00000583074.5:n.31G>A
ENST00000583850.5:n.87G>A
ENST00000583858.5:c.341G>A
ENST00000585203.6:n.520G>A
NM_000018.3:c.1312G>A	NP_000009.1:p.Gly438Arg
NM_001033859.2:c.1246G>A	NP_001029031.1:p.Gly416Arg
NM_001270447.1:c.1381G>A	NP_001257376.1:p.Gly461Arg
NM_001270448.1:c.1084G>A	NP_001257377.1:p.Gly362Arg
XM_006721516.2:c.1312G>A	XP_006721579.2:p.Gly438Arg
XM_011523829.1:c.1312G>A	XP_011522131.1:p.Gly438Arg
XM_011523830.1:c.1312G>A	XP_011522132.1:p.Gly438Arg
XR_934021.1:n.1419G>A
XR_934022.1:n.1419G>A
XR_934023.1:n.1419G>A
XM_006721516.3:c.1312G>A	XP_006721579.2:p.Gly438Arg
XM_011523829.2:c.1312G>A	XP_011522131.1:p.Gly438Arg
XM_011523830.2:c.1312G>A	XP_011522132.1:p.Gly438Arg
XM_024450741.1:c.1312G>A	XP_024306509.1:p.Gly438Arg
XR_934021.2:n.1371G>A
XR_934022.2:n.1371G>A
XR_934023.2:n.1371G>A
NM_000018.4:c.1312G>A MANE Select	NP_000009.1:p.Gly438Arg
NM_001033859.3:c.1246G>A	NP_001029031.1:p.Gly416Arg
NM_001270447.2:c.1381G>A	NP_001257376.1:p.Gly461Arg
NM_001270448.2:c.1084G>A	NP_001257377.1:p.Gly362Arg