Canonical Allele Identifier: CA401065250

Gene: ACOX1

Linked Data

• MyVariant Identifiers: chr17:g.73949562G>A (hg19) ; chr17:g.75953481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953481G>A , CM000679.2:g.75953481G>A	GRCh38
NC_000017.10:g.73949562G>A , CM000679.1:g.73949562G>A	GRCh37
NC_000017.9:g.71461157G>A	NCBI36
NG_008190.1:g.30883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.914C>T	ENSP00000301608.4:p.Ala305Val
ENST00000293217.10:c.914C>T MANE Select	ENSP00000293217.4:p.Ala305Val
ENST00000293217.9:c.914C>T	ENSP00000293217.4:p.Ala305Val
ENST00000301608.8:c.914C>T	ENSP00000301608.4:p.Ala305Val
ENST00000572047.5:c.1088C>T	ENSP00000459936.1:n.1088C>T
ENST00000573078.5:c.*403C>T	ENSP00000458325.1:n.*403C>T
ENST00000589744.1:n.164C>T
NM_001185039.1:c.800C>T	NP_001171968.1:p.Ala267Val
NM_004035.6:c.914C>T	NP_004026.2:p.Ala305Val
NM_007292.5:c.914C>T	NP_009223.2:p.Ala305Val
XM_011524868.1:c.710C>T	XP_011523170.1:p.Ala237Val
XM_011524869.1:c.506C>T	XP_011523171.1:p.Ala169Val
XM_011524868.3:c.710C>T	XP_011523170.1:p.Ala237Val
XM_011524869.3:c.506C>T	XP_011523171.1:p.Ala169Val
NM_004035.7:c.914C>T MANE Select	NP_004026.2:p.Ala305Val
NM_001185039.2:c.800C>T	NP_001171968.1:p.Ala267Val
NM_007292.6:c.914C>T	NP_009223.2:p.Ala305Val