Canonical Allele Identifier: CA401065216

Gene: ACOX1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000301608.9:c.920G>T	ENSP00000301608.4:p.Arg307Met
ENST00000293217.10:c.920G>T MANE Select	ENSP00000293217.4:p.Arg307Met
ENST00000293217.9:c.920G>T	ENSP00000293217.4:p.Arg307Met
ENST00000301608.8:c.920G>T	ENSP00000301608.4:p.Arg307Met
ENST00000572047.5:c.1094G>T	ENSP00000459936.1:n.1094G>T
ENST00000573078.5:c.*409G>T	ENSP00000458325.1:n.*409G>T
ENST00000589744.1:n.170G>T
NM_001185039.1:c.806G>T	NP_001171968.1:p.Arg269Met
NM_004035.6:c.920G>T	NP_004026.2:p.Arg307Met
NM_007292.5:c.920G>T	NP_009223.2:p.Arg307Met
XM_011524868.1:c.716G>T	XP_011523170.1:p.Arg239Met
XM_011524869.1:c.512G>T	XP_011523171.1:p.Arg171Met
XM_011524868.3:c.716G>T	XP_011523170.1:p.Arg239Met
XM_011524869.3:c.512G>T	XP_011523171.1:p.Arg171Met
NM_004035.7:c.920G>T MANE Select	NP_004026.2:p.Arg307Met
NM_001185039.2:c.806G>T	NP_001171968.1:p.Arg269Met
NM_007292.6:c.920G>T	NP_009223.2:p.Arg307Met