Canonical Allele Identifier: CA401064390

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75951543G>A , CM000679.2:g.75951543G>A	GRCh38
NC_000017.10:g.73947624G>A , CM000679.1:g.73947624G>A	GRCh37
NC_000017.9:g.71459219G>A	NCBI36
NG_008190.1:g.32821C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.979C>T MANE Select	NP_004026.2:p.Gln327Ter
ENST00000293217.10:c.979C>T MANE Select	ENSP00000293217.4:p.Gln327Ter
NM_001185039.1:c.865C>T	NP_001171968.1:p.Gln289Ter
NM_001185039.2:c.865C>T	NP_001171968.1:p.Gln289Ter
NM_004035.6:c.979C>T	NP_004026.2:p.Gln327Ter
NM_007292.5:c.979C>T	NP_009223.2:p.Gln327Ter
NM_007292.6:c.979C>T	NP_009223.2:p.Gln327Ter
ENST00000293217.9:c.979C>T	ENSP00000293217.4:p.Gln327Ter
ENST00000301608.8:c.979C>T	ENSP00000301608.4:p.Gln327Ter
ENST00000301608.9:c.979C>T	ENSP00000301608.4:p.Gln327Ter
ENST00000572047.5:c.1153C>T	ENSP00000459936.1:n.1153C>T
ENST00000573078.5:c.*468C>T	ENSP00000458325.1:n.*468C>T
XM_011524868.1:c.775C>T	XP_011523170.1:p.Gln259Ter
XM_011524868.3:c.775C>T	XP_011523170.1:p.Gln259Ter
XM_011524869.1:c.571C>T	XP_011523171.1:p.Gln191Ter
XM_011524869.3:c.571C>T	XP_011523171.1:p.Gln191Ter