Canonical Allele Identifier: CA8337835

Gene: ACADVL

Linked Data

• dbSNP Id: rs781176147
• ExAC: 17:7125458 C / G
• gnomAD v2: 17-7125458-C-G
• gnomAD v3: 17-7222139-C-G
• gnomAD v4: 17-7222139-C-G
• MyVariant Identifiers: chr17:g.7125458C>G (hg19) ; chr17:g.7222139C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222139C>G , CM000679.2:g.7222139C>G	GRCh38
NC_000017.10:g.7125458C>G , CM000679.1:g.7125458C>G	GRCh37
NC_000017.9:g.7066182C>G	NCBI36
NG_007975.1:g.7306C>G
NG_008391.2:g.2912G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.753-38C>G MANE Select	ENSP00000349297.5:n.753-38C>G
ENST00000322910.9:c.*708-38C>G	ENSP00000325395.5:n.*708-38C>G
ENST00000350303.9:c.687-38C>G	ENSP00000344152.5:n.687-38C>G
ENST00000356839.9:c.753-38C>G	ENSP00000349297.5:n.753-38C>G
ENST00000543245.6:c.822-38C>G	ENSP00000438689.2:n.822-38C>G
ENST00000577191.5:n.887C>G
ENST00000581378.5:c.471-38C>G
ENST00000582379.1:n.137-38C>G
ENST00000583760.1:n.592C>G
NM_000018.3:c.753-38C>G	NP_000009.1:n.753-38C>G
NM_001033859.2:c.687-38C>G	NP_001029031.1:n.687-38C>G
NM_001270447.1:c.822-38C>G	NP_001257376.1:n.822-38C>G
NM_001270448.1:c.525-38C>G	NP_001257377.1:n.525-38C>G
XM_006721516.2:c.753-38C>G	XP_006721579.2:n.753-38C>G
XM_011523829.1:c.753-38C>G	XP_011522131.1:n.753-38C>G
XM_011523830.1:c.753-38C>G	XP_011522132.1:n.753-38C>G
XR_934021.1:n.860-38C>G
XR_934022.1:n.860-38C>G
XR_934023.1:n.860-38C>G
XM_006721516.3:c.753-38C>G	XP_006721579.2:n.753-38C>G
XM_011523829.2:c.753-38C>G	XP_011522131.1:n.753-38C>G
XM_011523830.2:c.753-38C>G	XP_011522132.1:n.753-38C>G
XM_024450741.1:c.753-38C>G	XP_024306509.1:n.753-38C>G
XR_934021.2:n.812-38C>G
XR_934022.2:n.812-38C>G
XR_934023.2:n.812-38C>G
NM_000018.4:c.753-38C>G MANE Select	NP_000009.1:n.753-38C>G
NM_001033859.3:c.687-38C>G	NP_001029031.1:n.687-38C>G
NM_001270447.2:c.822-38C>G	NP_001257376.1:n.822-38C>G
NM_001270448.2:c.525-38C>G	NP_001257377.1:n.525-38C>G