Canonical Allele Identifier: CA624861302

Gene: ACADVL

Linked Data

• dbSNP Id: rs1415626215
• gnomAD v2: 17-7126912-G-A
• gnomAD v4: 17-7223593-G-A
• MyVariant Identifiers: chr17:g.7126912G>A (hg19) ; chr17:g.7223593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223593G>A , CM000679.2:g.7223593G>A	GRCh38
NC_000017.10:g.7126912G>A , CM000679.1:g.7126912G>A	GRCh37
NC_000017.9:g.7067636G>A	NCBI36
NG_007975.1:g.8760G>A
NG_008391.2:g.1458C>T
NG_033038.1:g.15952C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1183-51G>A MANE Select	ENSP00000349297.5:n.1183-51G>A
ENST00000322910.9:c.*1138-51G>A	ENSP00000325395.5:n.*1138-51G>A
ENST00000350303.9:c.1117-51G>A	ENSP00000344152.5:n.1117-51G>A
ENST00000356839.9:c.1183-51G>A	ENSP00000349297.5:n.1183-51G>A
ENST00000542255.6:c.41-51G>A
ENST00000543245.6:c.1252-51G>A	ENSP00000438689.2:n.1252-51G>A
ENST00000578579.2:n.303G>A
ENST00000578711.1:n.89G>A
ENST00000578824.5:n.599-51G>A
ENST00000579425.5:n.207-51G>A
ENST00000579546.1:c.20-51G>A
ENST00000583858.5:c.212-51G>A
ENST00000585203.6:n.391-51G>A
NM_000018.3:c.1183-51G>A	NP_000009.1:n.1183-51G>A
NM_001033859.2:c.1117-51G>A	NP_001029031.1:n.1117-51G>A
NM_001270447.1:c.1252-51G>A	NP_001257376.1:n.1252-51G>A
NM_001270448.1:c.955-51G>A	NP_001257377.1:n.955-51G>A
XM_006721516.2:c.1183-51G>A	XP_006721579.2:n.1183-51G>A
XM_011523829.1:c.1183-51G>A	XP_011522131.1:n.1183-51G>A
XM_011523830.1:c.1183-51G>A	XP_011522132.1:n.1183-51G>A
XR_934021.1:n.1290-51G>A
XR_934022.1:n.1290-51G>A
XR_934023.1:n.1290-51G>A
XM_006721516.3:c.1183-51G>A	XP_006721579.2:n.1183-51G>A
XM_011523829.2:c.1183-51G>A	XP_011522131.1:n.1183-51G>A
XM_011523830.2:c.1183-51G>A	XP_011522132.1:n.1183-51G>A
XM_024450741.1:c.1183-51G>A	XP_024306509.1:n.1183-51G>A
XR_934021.2:n.1242-51G>A
XR_934022.2:n.1242-51G>A
XR_934023.2:n.1242-51G>A
NM_000018.4:c.1183-51G>A MANE Select	NP_000009.1:n.1183-51G>A
NM_001033859.3:c.1117-51G>A	NP_001029031.1:n.1117-51G>A
NM_001270447.2:c.1252-51G>A	NP_001257376.1:n.1252-51G>A
NM_001270448.2:c.955-51G>A	NP_001257377.1:n.955-51G>A