Canonical Allele Identifier: CA401065220

Gene: ACOX1

Linked Data

• MyVariant Identifiers: chr17:g.73949556C>G (hg19) ; chr17:g.75953475C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953475C>G , CM000679.2:g.75953475C>G	GRCh38
NC_000017.10:g.73949556C>G , CM000679.1:g.73949556C>G	GRCh37
NC_000017.9:g.71461151C>G	NCBI36
NG_008190.1:g.30889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.920G>C	ENSP00000301608.4:p.Arg307Thr
ENST00000293217.10:c.920G>C MANE Select	ENSP00000293217.4:p.Arg307Thr
ENST00000293217.9:c.920G>C	ENSP00000293217.4:p.Arg307Thr
ENST00000301608.8:c.920G>C	ENSP00000301608.4:p.Arg307Thr
ENST00000572047.5:c.1094G>C	ENSP00000459936.1:n.1094G>C
ENST00000573078.5:c.*409G>C	ENSP00000458325.1:n.*409G>C
ENST00000589744.1:n.170G>C
NM_001185039.1:c.806G>C	NP_001171968.1:p.Arg269Thr
NM_004035.6:c.920G>C	NP_004026.2:p.Arg307Thr
NM_007292.5:c.920G>C	NP_009223.2:p.Arg307Thr
XM_011524868.1:c.716G>C	XP_011523170.1:p.Arg239Thr
XM_011524869.1:c.512G>C	XP_011523171.1:p.Arg171Thr
XM_011524868.3:c.716G>C	XP_011523170.1:p.Arg239Thr
XM_011524869.3:c.512G>C	XP_011523171.1:p.Arg171Thr
NM_004035.7:c.920G>C MANE Select	NP_004026.2:p.Arg307Thr
NM_001185039.2:c.806G>C	NP_001171968.1:p.Arg269Thr
NM_007292.6:c.920G>C	NP_009223.2:p.Arg307Thr