Canonical Allele Identifier: CA210000

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75978627C>G , CM000679.2:g.75978627C>G	GRCh38
NC_000017.10:g.73974708C>G , CM000679.1:g.73974708C>G	GRCh37
NC_000017.9:g.71486303C>G	NCBI36
NG_008190.1:g.5737G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.176G>C MANE Select	NP_004026.2:p.Arg59Pro
ENST00000293217.10:c.176G>C MANE Select	ENSP00000293217.4:p.Arg59Pro
NM_001185039.1:c.62G>C	NP_001171968.1:p.Arg21Pro
NM_001185039.2:c.62G>C	NP_001171968.1:p.Arg21Pro
NM_004035.6:c.176G>C	NP_004026.2:p.Arg59Pro
NM_007292.5:c.176G>C	NP_009223.2:p.Arg59Pro
NM_007292.6:c.176G>C	NP_009223.2:p.Arg59Pro
ENST00000293217.9:c.176G>C	ENSP00000293217.4:p.Arg59Pro
ENST00000301608.8:c.176G>C	ENSP00000301608.4:p.Arg59Pro
ENST00000301608.9:c.176G>C	ENSP00000301608.4:p.Arg59Pro
ENST00000572047.5:c.350G>C	ENSP00000459936.1:n.350G>C
ENST00000573078.5:c.176G>C	ENSP00000458325.1:p.Arg59Pro
ENST00000576743.1:c.67G>C
ENST00000588176.5:c.176G>C	ENSP00000466210.1:p.Arg59Pro
ENST00000589301.1:c.*134G>C	ENSP00000468435.1:n.*134G>C
ENST00000591857.5:n.194G>C
ENST00000592329.1:n.148G>C
XM_011524868.1:c.-190G>C	XP_011523170.1:n.-190G>C
XM_011524868.3:c.-190G>C	XP_011523170.1:n.-190G>C
XM_011524869.1:c.-72G>C	XP_011523171.1:n.-72G>C
XM_011524869.3:c.-72G>C	XP_011523171.1:n.-72G>C