Canonical Allele Identifier: CA8337923

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1136493
• ClinVar RCV Id: RCV001472157
• dbSNP Id: rs760659262
• ExAC: 17:7126106 C / G
• gnomAD v2: 17-7126106-C-G
• gnomAD v4: 17-7222787-C-G
• MyVariant Identifiers: chr17:g.7126106C>G (hg19) ; chr17:g.7222787C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222787C>G , CM000679.2:g.7222787C>G	GRCh38
NC_000017.10:g.7126106C>G , CM000679.1:g.7126106C>G	GRCh37
NC_000017.9:g.7066830C>G	NCBI36
NG_007975.1:g.7954C>G
NG_008391.2:g.2264G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.999C>G MANE Select	ENSP00000349297.5:p.Ala333=
ENST00000322910.9:c.*954C>G	ENSP00000325395.5:n.*954C>G
ENST00000350303.9:c.933C>G	ENSP00000344152.5:p.Ala311=
ENST00000356839.9:c.999C>G	ENSP00000349297.5:p.Ala333=
ENST00000543245.6:c.1068C>G	ENSP00000438689.2:p.Ala356=
ENST00000578824.5:n.148C>G
ENST00000581378.5:c.717C>G
ENST00000582379.1:n.383C>G
ENST00000583858.5:c.28C>G
NM_000018.3:c.999C>G	NP_000009.1:p.Ala333=
NM_001033859.2:c.933C>G	NP_001029031.1:p.Ala311=
NM_001270447.1:c.1068C>G	NP_001257376.1:p.Ala356=
NM_001270448.1:c.771C>G	NP_001257377.1:p.Ala257=
XM_006721516.2:c.999C>G	XP_006721579.2:p.Ala333=
XM_011523829.1:c.999C>G	XP_011522131.1:p.Ala333=
XM_011523830.1:c.999C>G	XP_011522132.1:p.Ala333=
XR_934021.1:n.1106C>G
XR_934022.1:n.1106C>G
XR_934023.1:n.1106C>G
XM_006721516.3:c.999C>G	XP_006721579.2:p.Ala333=
XM_011523829.2:c.999C>G	XP_011522131.1:p.Ala333=
XM_011523830.2:c.999C>G	XP_011522132.1:p.Ala333=
XM_024450741.1:c.999C>G	XP_024306509.1:p.Ala333=
XR_934021.2:n.1058C>G
XR_934022.2:n.1058C>G
XR_934023.2:n.1058C>G
NM_000018.4:c.999C>G MANE Select	NP_000009.1:p.Ala333=
NM_001033859.3:c.933C>G	NP_001029031.1:p.Ala311=
NM_001270447.2:c.1068C>G	NP_001257376.1:p.Ala356=
NM_001270448.2:c.771C>G	NP_001257377.1:p.Ala257=