Canonical Allele Identifier: CA401071216

Gene: ACOX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75960251T>G , CM000679.2:g.75960251T>G	GRCh38
NC_000017.10:g.73956332T>G , CM000679.1:g.73956332T>G	GRCh37
NC_000017.9:g.71467927T>G	NCBI36
NG_008190.1:g.24113A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.431-2685A>C	ENSP00000301608.4:n.431-2685A>C
ENST00000293217.10:c.394A>C MANE Select	ENSP00000293217.4:p.Ile132Leu
ENST00000293217.9:c.394A>C	ENSP00000293217.4:p.Ile132Leu
ENST00000301608.8:c.431-2685A>C	ENSP00000301608.4:n.431-2685A>C
ENST00000572047.5:c.568A>C	ENSP00000459936.1:n.568A>C
ENST00000573078.5:c.555A>C	ENSP00000458325.1:p.Arg185Ser
ENST00000588176.5:c.431-4304A>C	ENSP00000466210.1:n.431-4304A>C
ENST00000589301.1:c.*228-2685A>C	ENSP00000468435.1:n.*228-2685A>C
ENST00000591857.5:n.412A>C
NM_001185039.1:c.280A>C	NP_001171968.1:p.Ile94Leu
NM_004035.6:c.394A>C	NP_004026.2:p.Ile132Leu
NM_007292.5:c.431-2685A>C	NP_009223.2:n.431-2685A>C
XM_011524868.1:c.190A>C	XP_011523170.1:p.Ile64Leu
XM_011524869.1:c.23-2685A>C	XP_011523171.1:n.23-2685A>C
XM_011524868.3:c.190A>C	XP_011523170.1:p.Ile64Leu
XM_011524869.3:c.23-2685A>C	XP_011523171.1:n.23-2685A>C
NM_004035.7:c.394A>C MANE Select	NP_004026.2:p.Ile132Leu
NM_001185039.2:c.280A>C	NP_001171968.1:p.Ile94Leu
NM_007292.6:c.431-2685A>C	NP_009223.2:n.431-2685A>C