Canonical Allele Identifier: CA397723935

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2068640
• ClinVar RCV Id: RCV002974977
• gnomAD v4: 17-7222690-G-A
• MyVariant Identifiers: chr17:g.7126009G>A (hg19) ; chr17:g.7222690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222690G>A , CM000679.2:g.7222690G>A	GRCh38
NC_000017.10:g.7126009G>A , CM000679.1:g.7126009G>A	GRCh37
NC_000017.9:g.7066733G>A	NCBI36
NG_007975.1:g.7857G>A
NG_008391.2:g.2361C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.902G>A MANE Select	ENSP00000349297.5:p.Gly301Asp
ENST00000322910.9:c.*857G>A	ENSP00000325395.5:n.*857G>A
ENST00000350303.9:c.836G>A	ENSP00000344152.5:p.Gly279Asp
ENST00000356839.9:c.902G>A	ENSP00000349297.5:p.Gly301Asp
ENST00000543245.6:c.971G>A	ENSP00000438689.2:p.Gly324Asp
ENST00000578824.5:n.51G>A
ENST00000581378.5:c.620G>A
ENST00000582379.1:n.286G>A
NM_000018.3:c.902G>A	NP_000009.1:p.Gly301Asp
NM_001033859.2:c.836G>A	NP_001029031.1:p.Gly279Asp
NM_001270447.1:c.971G>A	NP_001257376.1:p.Gly324Asp
NM_001270448.1:c.674G>A	NP_001257377.1:p.Gly225Asp
XM_006721516.2:c.902G>A	XP_006721579.2:p.Gly301Asp
XM_011523829.1:c.902G>A	XP_011522131.1:p.Gly301Asp
XM_011523830.1:c.902G>A	XP_011522132.1:p.Gly301Asp
XR_934021.1:n.1009G>A
XR_934022.1:n.1009G>A
XR_934023.1:n.1009G>A
XM_006721516.3:c.902G>A	XP_006721579.2:p.Gly301Asp
XM_011523829.2:c.902G>A	XP_011522131.1:p.Gly301Asp
XM_011523830.2:c.902G>A	XP_011522132.1:p.Gly301Asp
XM_024450741.1:c.902G>A	XP_024306509.1:p.Gly301Asp
XR_934021.2:n.961G>A
XR_934022.2:n.961G>A
XR_934023.2:n.961G>A
NM_000018.4:c.902G>A MANE Select	NP_000009.1:p.Gly301Asp
NM_001033859.3:c.836G>A	NP_001029031.1:p.Gly279Asp
NM_001270447.2:c.971G>A	NP_001257376.1:p.Gly324Asp
NM_001270448.2:c.674G>A	NP_001257377.1:p.Gly225Asp