Canonical Allele Identifier: CA8776666

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75948430T>C , CM000679.2:g.75948430T>C	GRCh38
NC_000017.10:g.73944511T>C , CM000679.1:g.73944511T>C	GRCh37
NC_000017.9:g.71456106T>C	NCBI36
NG_008190.1:g.35934A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.1756A>G MANE Select	NP_004026.2:p.Thr586Ala
ENST00000293217.10:c.1756A>G MANE Select	ENSP00000293217.4:p.Thr586Ala
NM_001185039.1:c.1642A>G	NP_001171968.1:p.Thr548Ala
NM_001185039.2:c.1642A>G	NP_001171968.1:p.Thr548Ala
NM_004035.6:c.1756A>G	NP_004026.2:p.Thr586Ala
NM_007292.5:c.1756A>G	NP_009223.2:p.Thr586Ala
NM_007292.6:c.1756A>G	NP_009223.2:p.Thr586Ala
ENST00000293217.9:c.1756A>G	ENSP00000293217.4:p.Thr586Ala
ENST00000301608.8:c.1756A>G	ENSP00000301608.4:p.Thr586Ala
ENST00000301608.9:c.1756A>G	ENSP00000301608.4:p.Thr586Ala
ENST00000572047.5:c.1930A>G	ENSP00000459936.1:n.1930A>G
ENST00000573078.5:c.*1245A>G	ENSP00000458325.1:n.*1245A>G
ENST00000587927.5:c.171A>G
ENST00000588968.5:c.210A>G
XM_011524868.1:c.1552A>G	XP_011523170.1:p.Thr518Ala
XM_011524868.3:c.1552A>G	XP_011523170.1:p.Thr518Ala
XM_011524869.1:c.1348A>G	XP_011523171.1:p.Thr450Ala
XM_011524869.3:c.1348A>G	XP_011523171.1:p.Thr450Ala