Canonical Allele Identifier: CA8337837

Gene: ACADVL

Linked Data

• dbSNP Id: rs747964332
• ExAC: 17:7125460 C / A
• gnomAD v2: 17-7125460-C-A
• gnomAD v3: 17-7222141-C-A
• gnomAD v4: 17-7222141-C-A
• MyVariant Identifiers: chr17:g.7125460C>A (hg19) ; chr17:g.7222141C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222141C>A , CM000679.2:g.7222141C>A	GRCh38
NC_000017.10:g.7125460C>A , CM000679.1:g.7125460C>A	GRCh37
NC_000017.9:g.7066184C>A	NCBI36
NG_007975.1:g.7308C>A
NG_008391.2:g.2910G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.753-36C>A MANE Select	ENSP00000349297.5:n.753-36C>A
ENST00000322910.9:c.*708-36C>A	ENSP00000325395.5:n.*708-36C>A
ENST00000350303.9:c.687-36C>A	ENSP00000344152.5:n.687-36C>A
ENST00000356839.9:c.753-36C>A	ENSP00000349297.5:n.753-36C>A
ENST00000543245.6:c.822-36C>A	ENSP00000438689.2:n.822-36C>A
ENST00000577191.5:n.889C>A
ENST00000581378.5:c.471-36C>A
ENST00000582379.1:n.137-36C>A
ENST00000583760.1:n.594C>A
NM_000018.3:c.753-36C>A	NP_000009.1:n.753-36C>A
NM_001033859.2:c.687-36C>A	NP_001029031.1:n.687-36C>A
NM_001270447.1:c.822-36C>A	NP_001257376.1:n.822-36C>A
NM_001270448.1:c.525-36C>A	NP_001257377.1:n.525-36C>A
XM_006721516.2:c.753-36C>A	XP_006721579.2:n.753-36C>A
XM_011523829.1:c.753-36C>A	XP_011522131.1:n.753-36C>A
XM_011523830.1:c.753-36C>A	XP_011522132.1:n.753-36C>A
XR_934021.1:n.860-36C>A
XR_934022.1:n.860-36C>A
XR_934023.1:n.860-36C>A
XM_006721516.3:c.753-36C>A	XP_006721579.2:n.753-36C>A
XM_011523829.2:c.753-36C>A	XP_011522131.1:n.753-36C>A
XM_011523830.2:c.753-36C>A	XP_011522132.1:n.753-36C>A
XM_024450741.1:c.753-36C>A	XP_024306509.1:n.753-36C>A
XR_934021.2:n.812-36C>A
XR_934022.2:n.812-36C>A
XR_934023.2:n.812-36C>A
NM_000018.4:c.753-36C>A MANE Select	NP_000009.1:n.753-36C>A
NM_001033859.3:c.687-36C>A	NP_001029031.1:n.687-36C>A
NM_001270447.2:c.822-36C>A	NP_001257376.1:n.822-36C>A
NM_001270448.2:c.525-36C>A	NP_001257377.1:n.525-36C>A