Canonical Allele Identifier: CA401068257
Community Standard Title: NM_004035.7(ACOX1):c.541G>C (p.Gly181Arg)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75955945C>G , CM000679.2:g.75955945C>G GRCh38
NC_000017.10:g.73952026C>G , CM000679.1:g.73952026C>G GRCh37
NC_000017.9:g.71463621C>G NCBI36
NG_008190.1:g.28419G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.541G>C MANE Select NP_004026.2:p.Gly181Arg
ENST00000293217.10:c.541G>C MANE Select ENSP00000293217.4:p.Gly181Arg
NM_001185039.1:c.427G>C NP_001171968.1:p.Gly143Arg
NM_001185039.2:c.427G>C NP_001171968.1:p.Gly143Arg
NM_004035.6:c.541G>C NP_004026.2:p.Gly181Arg
NM_007292.5:c.541G>C NP_009223.2:p.Gly181Arg
NM_007292.6:c.541G>C NP_009223.2:p.Gly181Arg
ENST00000293217.9:c.541G>C ENSP00000293217.4:p.Gly181Arg
ENST00000301608.8:c.541G>C ENSP00000301608.4:p.Gly181Arg
ENST00000301608.9:c.541G>C ENSP00000301608.4:p.Gly181Arg
ENST00000572047.5:c.715G>C ENSP00000459936.1:n.715G>C
ENST00000573078.5:c.*30G>C ENSP00000458325.1:n.*30G>C
ENST00000588176.5:c.433G>C ENSP00000466210.1:p.Gly145Arg
ENST00000591857.5:n.597G>C
XM_011524868.1:c.337G>C XP_011523170.1:p.Gly113Arg
XM_011524868.3:c.337G>C XP_011523170.1:p.Gly113Arg
XM_011524869.1:c.133G>C XP_011523171.1:p.Gly45Arg
XM_011524869.3:c.133G>C XP_011523171.1:p.Gly45Arg