Canonical Allele Identifier: CA401065234

Gene: ACOX1

Linked Data

• MyVariant Identifiers: chr17:g.73949559A>C (hg19) ; chr17:g.75953478A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75953478A>C , CM000679.2:g.75953478A>C	GRCh38
NC_000017.10:g.73949559A>C , CM000679.1:g.73949559A>C	GRCh37
NC_000017.9:g.71461154A>C	NCBI36
NG_008190.1:g.30886T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.917T>G	ENSP00000301608.4:p.Val306Gly
ENST00000293217.10:c.917T>G MANE Select	ENSP00000293217.4:p.Val306Gly
ENST00000293217.9:c.917T>G	ENSP00000293217.4:p.Val306Gly
ENST00000301608.8:c.917T>G	ENSP00000301608.4:p.Val306Gly
ENST00000572047.5:c.1091T>G	ENSP00000459936.1:n.1091T>G
ENST00000573078.5:c.*406T>G	ENSP00000458325.1:n.*406T>G
ENST00000589744.1:n.167T>G
NM_001185039.1:c.803T>G	NP_001171968.1:p.Val268Gly
NM_004035.6:c.917T>G	NP_004026.2:p.Val306Gly
NM_007292.5:c.917T>G	NP_009223.2:p.Val306Gly
XM_011524868.1:c.713T>G	XP_011523170.1:p.Val238Gly
XM_011524869.1:c.509T>G	XP_011523171.1:p.Val170Gly
XM_011524868.3:c.713T>G	XP_011523170.1:p.Val238Gly
XM_011524869.3:c.509T>G	XP_011523171.1:p.Val170Gly
NM_004035.7:c.917T>G MANE Select	NP_004026.2:p.Val306Gly
NM_001185039.2:c.803T>G	NP_001171968.1:p.Val268Gly
NM_007292.6:c.917T>G	NP_009223.2:p.Val306Gly