Canonical Allele Identifier: CA401065211

Gene: ACOX1

Linked Data

• MyVariant Identifiers: chr17:g.73949555C>G (hg19) ; chr17:g.75953474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953474C>G , CM000679.2:g.75953474C>G	GRCh38
NC_000017.10:g.73949555C>G , CM000679.1:g.73949555C>G	GRCh37
NC_000017.9:g.71461150C>G	NCBI36
NG_008190.1:g.30890G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301608.9:c.921G>C	ENSP00000301608.4:p.Arg307Ser
ENST00000293217.10:c.921G>C MANE Select	ENSP00000293217.4:p.Arg307Ser
ENST00000293217.9:c.921G>C	ENSP00000293217.4:p.Arg307Ser
ENST00000301608.8:c.921G>C	ENSP00000301608.4:p.Arg307Ser
ENST00000572047.5:c.1095G>C	ENSP00000459936.1:n.1095G>C
ENST00000573078.5:c.*410G>C	ENSP00000458325.1:n.*410G>C
ENST00000589744.1:n.171G>C
NM_001185039.1:c.807G>C	NP_001171968.1:p.Arg269Ser
NM_004035.6:c.921G>C	NP_004026.2:p.Arg307Ser
NM_007292.5:c.921G>C	NP_009223.2:p.Arg307Ser
XM_011524868.1:c.717G>C	XP_011523170.1:p.Arg239Ser
XM_011524869.1:c.513G>C	XP_011523171.1:p.Arg171Ser
XM_011524868.3:c.717G>C	XP_011523170.1:p.Arg239Ser
XM_011524869.3:c.513G>C	XP_011523171.1:p.Arg171Ser
NM_004035.7:c.921G>C MANE Select	NP_004026.2:p.Arg307Ser
NM_001185039.2:c.807G>C	NP_001171968.1:p.Arg269Ser
NM_007292.6:c.921G>C	NP_009223.2:p.Arg307Ser