Canonical Allele Identifier: CA401065264

Gene: ACOX1

Linked Data

• dbSNP Id: rs1166143285
• gnomAD v2: 17-73949563-C-T
• gnomAD v3: 17-75953482-C-T
• gnomAD v4: 17-75953482-C-T
• COSMIC: COSM1386095 ; COSM1386096
• MyVariant Identifiers: chr17:g.73949563C>T (hg19) ; chr17:g.75953482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953482C>T , CM000679.2:g.75953482C>T	GRCh38
NC_000017.10:g.73949563C>T , CM000679.1:g.73949563C>T	GRCh37
NC_000017.9:g.71461158C>T	NCBI36
NG_008190.1:g.30882G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301608.9:c.913G>A	ENSP00000301608.4:p.Ala305Thr
ENST00000293217.10:c.913G>A MANE Select	ENSP00000293217.4:p.Ala305Thr
ENST00000293217.9:c.913G>A	ENSP00000293217.4:p.Ala305Thr
ENST00000301608.8:c.913G>A	ENSP00000301608.4:p.Ala305Thr
ENST00000572047.5:c.1087G>A	ENSP00000459936.1:n.1087G>A
ENST00000573078.5:c.*402G>A	ENSP00000458325.1:n.*402G>A
ENST00000589744.1:n.163G>A
NM_001185039.1:c.799G>A	NP_001171968.1:p.Ala267Thr
NM_004035.6:c.913G>A	NP_004026.2:p.Ala305Thr
NM_007292.5:c.913G>A	NP_009223.2:p.Ala305Thr
XM_011524868.1:c.709G>A	XP_011523170.1:p.Ala237Thr
XM_011524869.1:c.505G>A	XP_011523171.1:p.Ala169Thr
XM_011524868.3:c.709G>A	XP_011523170.1:p.Ala237Thr
XM_011524869.3:c.505G>A	XP_011523171.1:p.Ala169Thr
NM_004035.7:c.913G>A MANE Select	NP_004026.2:p.Ala305Thr
NM_001185039.2:c.799G>A	NP_001171968.1:p.Ala267Thr
NM_007292.6:c.913G>A	NP_009223.2:p.Ala305Thr