Canonical Allele Identifier: CA397726262

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071416202
• gnomAD v3: 17-7225090-G-A
• gnomAD v4: 17-7225090-G-A
• MyVariant Identifiers: chr17:g.7128409G>A (hg19) ; chr17:g.7225090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225090G>A , CM000679.2:g.7225090G>A	GRCh38
NC_000017.10:g.7128409G>A , CM000679.1:g.7128409G>A	GRCh37
NC_000017.9:g.7069133G>A	NCBI36
NG_007975.1:g.10257G>A
NG_033038.1:g.14455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1961G>A MANE Select	ENSP00000349297.5:p.Gly654Asp
ENST00000322910.9:c.*1916G>A	ENSP00000325395.5:n.*1916G>A
ENST00000350303.9:c.1895G>A	ENSP00000344152.5:p.Gly632Asp
ENST00000356839.9:c.1961G>A	ENSP00000349297.5:p.Gly654Asp
ENST00000542255.6:c.840G>A
ENST00000543245.6:c.2030G>A	ENSP00000438689.2:p.Gly677Asp
ENST00000578033.1:n.386G>A
ENST00000578319.5:n.542G>A
ENST00000578711.1:n.1586G>A
ENST00000578809.5:n.533G>A
ENST00000579425.5:n.1077G>A
ENST00000583848.5:c.327G>A	ENSP00000466487.1:n.327G>A
ENST00000583850.5:n.732G>A
ENST00000583858.5:c.892G>A
NM_000018.3:c.1961G>A	NP_000009.1:p.Gly654Asp
NM_001033859.2:c.1895G>A	NP_001029031.1:p.Gly632Asp
NM_001270447.1:c.2030G>A	NP_001257376.1:p.Gly677Asp
NM_001270448.1:c.1733G>A	NP_001257377.1:p.Gly578Asp
XM_006721516.2:c.1982G>A	XP_006721579.2:p.Gly661Asp
XM_011523829.1:c.1880G>A	XP_011522131.1:p.Gly627Asp
XM_011523830.1:c.1859G>A	XP_011522132.1:p.Gly620Asp
XR_934021.1:n.2064G>A
XR_934022.1:n.1970G>A
XR_934023.1:n.1991G>A
XM_006721516.3:c.1982G>A	XP_006721579.2:p.Gly661Asp
XM_011523829.2:c.1880G>A	XP_011522131.1:p.Gly627Asp
XM_011523830.2:c.1859G>A	XP_011522132.1:p.Gly620Asp
XM_024450741.1:c.1949G>A	XP_024306509.1:p.Gly650Asp
XR_934021.2:n.2016G>A
XR_934022.2:n.1922G>A
XR_934023.2:n.1943G>A
NM_000018.4:c.1961G>A MANE Select	NP_000009.1:p.Gly654Asp
NM_001033859.3:c.1895G>A	NP_001029031.1:p.Gly632Asp
NM_001270447.2:c.2030G>A	NP_001257376.1:p.Gly677Asp
NM_001270448.2:c.1733G>A	NP_001257377.1:p.Gly578Asp