Canonical Allele Identifier: CA397724127

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 957580
• ClinVar RCV Id: RCV001230578
• dbSNP Id: rs2071292782
• gnomAD v4: 17-7222785-G-A
• MyVariant Identifiers: chr17:g.7126104G>A (hg19) ; chr17:g.7222785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222785G>A , CM000679.2:g.7222785G>A	GRCh38
NC_000017.10:g.7126104G>A , CM000679.1:g.7126104G>A	GRCh37
NC_000017.9:g.7066828G>A	NCBI36
NG_007975.1:g.7952G>A
NG_008391.2:g.2266C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.997G>A MANE Select	ENSP00000349297.5:p.Ala333Thr
ENST00000322910.9:c.*952G>A	ENSP00000325395.5:n.*952G>A
ENST00000350303.9:c.931G>A	ENSP00000344152.5:p.Ala311Thr
ENST00000356839.9:c.997G>A	ENSP00000349297.5:p.Ala333Thr
ENST00000543245.6:c.1066G>A	ENSP00000438689.2:p.Ala356Thr
ENST00000578824.5:n.146G>A
ENST00000581378.5:c.715G>A
ENST00000582379.1:n.381G>A
ENST00000583858.5:c.26G>A
NM_000018.3:c.997G>A	NP_000009.1:p.Ala333Thr
NM_001033859.2:c.931G>A	NP_001029031.1:p.Ala311Thr
NM_001270447.1:c.1066G>A	NP_001257376.1:p.Ala356Thr
NM_001270448.1:c.769G>A	NP_001257377.1:p.Ala257Thr
XM_006721516.2:c.997G>A	XP_006721579.2:p.Ala333Thr
XM_011523829.1:c.997G>A	XP_011522131.1:p.Ala333Thr
XM_011523830.1:c.997G>A	XP_011522132.1:p.Ala333Thr
XR_934021.1:n.1104G>A
XR_934022.1:n.1104G>A
XR_934023.1:n.1104G>A
XM_006721516.3:c.997G>A	XP_006721579.2:p.Ala333Thr
XM_011523829.2:c.997G>A	XP_011522131.1:p.Ala333Thr
XM_011523830.2:c.997G>A	XP_011522132.1:p.Ala333Thr
XM_024450741.1:c.997G>A	XP_024306509.1:p.Ala333Thr
XR_934021.2:n.1056G>A
XR_934022.2:n.1056G>A
XR_934023.2:n.1056G>A
NM_000018.4:c.997G>A MANE Select	NP_000009.1:p.Ala333Thr
NM_001033859.3:c.931G>A	NP_001029031.1:p.Ala311Thr
NM_001270447.2:c.1066G>A	NP_001257376.1:p.Ala356Thr
NM_001270448.2:c.769G>A	NP_001257377.1:p.Ala257Thr