Canonical Allele Identifier: CA774742576

Gene: ACADVL

Linked Data

• dbSNP Id: rs1392681191
• MyVariant Identifiers: chr17:g.7125471C>A (hg19) ; chr17:g.7222152C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222152C>A , CM000679.2:g.7222152C>A	GRCh38
NC_000017.10:g.7125471C>A , CM000679.1:g.7125471C>A	GRCh37
NC_000017.9:g.7066195C>A	NCBI36
NG_007975.1:g.7319C>A
NG_008391.2:g.2899G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.753-25C>A MANE Select	ENSP00000349297.5:n.753-25C>A
ENST00000322910.9:c.*708-25C>A	ENSP00000325395.5:n.*708-25C>A
ENST00000350303.9:c.687-25C>A	ENSP00000344152.5:n.687-25C>A
ENST00000356839.9:c.753-25C>A	ENSP00000349297.5:n.753-25C>A
ENST00000543245.6:c.822-25C>A	ENSP00000438689.2:n.822-25C>A
ENST00000577191.5:n.900C>A
ENST00000581378.5:c.471-25C>A
ENST00000582379.1:n.137-25C>A
NM_000018.3:c.753-25C>A	NP_000009.1:n.753-25C>A
NM_001033859.2:c.687-25C>A	NP_001029031.1:n.687-25C>A
NM_001270447.1:c.822-25C>A	NP_001257376.1:n.822-25C>A
NM_001270448.1:c.525-25C>A	NP_001257377.1:n.525-25C>A
XM_006721516.2:c.753-25C>A	XP_006721579.2:n.753-25C>A
XM_011523829.1:c.753-25C>A	XP_011522131.1:n.753-25C>A
XM_011523830.1:c.753-25C>A	XP_011522132.1:n.753-25C>A
XR_934021.1:n.860-25C>A
XR_934022.1:n.860-25C>A
XR_934023.1:n.860-25C>A
XM_006721516.3:c.753-25C>A	XP_006721579.2:n.753-25C>A
XM_011523829.2:c.753-25C>A	XP_011522131.1:n.753-25C>A
XM_011523830.2:c.753-25C>A	XP_011522132.1:n.753-25C>A
XM_024450741.1:c.753-25C>A	XP_024306509.1:n.753-25C>A
XR_934021.2:n.812-25C>A
XR_934022.2:n.812-25C>A
XR_934023.2:n.812-25C>A
NM_000018.4:c.753-25C>A MANE Select	NP_000009.1:n.753-25C>A
NM_001033859.3:c.687-25C>A	NP_001029031.1:n.687-25C>A
NM_001270447.2:c.822-25C>A	NP_001257376.1:n.822-25C>A
NM_001270448.2:c.525-25C>A	NP_001257377.1:n.525-25C>A