Canonical Allele Identifier: CA397723897

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125991C>A (hg19) ; chr17:g.7222672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222672C>A , CM000679.2:g.7222672C>A	GRCh38
NC_000017.10:g.7125991C>A , CM000679.1:g.7125991C>A	GRCh37
NC_000017.9:g.7066715C>A	NCBI36
NG_007975.1:g.7839C>A
NG_008391.2:g.2379G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.884C>A MANE Select	ENSP00000349297.5:p.Pro295His
ENST00000322910.9:c.*839C>A	ENSP00000325395.5:n.*839C>A
ENST00000350303.9:c.818C>A	ENSP00000344152.5:p.Pro273His
ENST00000356839.9:c.884C>A	ENSP00000349297.5:p.Pro295His
ENST00000543245.6:c.953C>A	ENSP00000438689.2:p.Pro318His
ENST00000578824.5:n.33C>A
ENST00000581378.5:c.602C>A
ENST00000582379.1:n.268C>A
NM_000018.3:c.884C>A	NP_000009.1:p.Pro295His
NM_001033859.2:c.818C>A	NP_001029031.1:p.Pro273His
NM_001270447.1:c.953C>A	NP_001257376.1:p.Pro318His
NM_001270448.1:c.656C>A	NP_001257377.1:p.Pro219His
XM_006721516.2:c.884C>A	XP_006721579.2:p.Pro295His
XM_011523829.1:c.884C>A	XP_011522131.1:p.Pro295His
XM_011523830.1:c.884C>A	XP_011522132.1:p.Pro295His
XR_934021.1:n.991C>A
XR_934022.1:n.991C>A
XR_934023.1:n.991C>A
XM_006721516.3:c.884C>A	XP_006721579.2:p.Pro295His
XM_011523829.2:c.884C>A	XP_011522131.1:p.Pro295His
XM_011523830.2:c.884C>A	XP_011522132.1:p.Pro295His
XM_024450741.1:c.884C>A	XP_024306509.1:p.Pro295His
XR_934021.2:n.943C>A
XR_934022.2:n.943C>A
XR_934023.2:n.943C>A
NM_000018.4:c.884C>A MANE Select	NP_000009.1:p.Pro295His
NM_001033859.3:c.818C>A	NP_001029031.1:p.Pro273His
NM_001270447.2:c.953C>A	NP_001257376.1:p.Pro318His
NM_001270448.2:c.656C>A	NP_001257377.1:p.Pro219His