Canonical Allele Identifier: CA8776983

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75955935G>A , CM000679.2:g.75955935G>A	GRCh38
NC_000017.10:g.73952016G>A , CM000679.1:g.73952016G>A	GRCh37
NC_000017.9:g.71463611G>A	NCBI36
NG_008190.1:g.28429C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.551C>T MANE Select	NP_004026.2:p.Ser184Leu
ENST00000293217.10:c.551C>T MANE Select	ENSP00000293217.4:p.Ser184Leu
NM_001185039.1:c.437C>T	NP_001171968.1:p.Ser146Leu
NM_001185039.2:c.437C>T	NP_001171968.1:p.Ser146Leu
NM_004035.6:c.551C>T	NP_004026.2:p.Ser184Leu
NM_007292.5:c.551C>T	NP_009223.2:p.Ser184Leu
NM_007292.6:c.551C>T	NP_009223.2:p.Ser184Leu
ENST00000293217.9:c.551C>T	ENSP00000293217.4:p.Ser184Leu
ENST00000301608.8:c.551C>T	ENSP00000301608.4:p.Ser184Leu
ENST00000301608.9:c.551C>T	ENSP00000301608.4:p.Ser184Leu
ENST00000572047.5:c.725C>T	ENSP00000459936.1:n.725C>T
ENST00000573078.5:c.*40C>T	ENSP00000458325.1:n.*40C>T
ENST00000588176.5:c.443C>T	ENSP00000466210.1:p.Ser148Leu
ENST00000591857.5:n.607C>T
XM_011524868.1:c.347C>T	XP_011523170.1:p.Ser116Leu
XM_011524868.3:c.347C>T	XP_011523170.1:p.Ser116Leu
XM_011524869.1:c.143C>T	XP_011523171.1:p.Ser48Leu
XM_011524869.3:c.143C>T	XP_011523171.1:p.Ser48Leu