Canonical Allele Identifier: CA401081983
Community Standard Title: NM_004035.7(ACOX1):c.261G>A (p.Trp87Ter)
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75978542C>T , CM000679.2:g.75978542C>T GRCh38
NC_000017.10:g.73974623C>T , CM000679.1:g.73974623C>T GRCh37
NC_000017.9:g.71486218C>T NCBI36
NG_008190.1:g.5822G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.261G>A MANE Select NP_004026.2:p.Trp87Ter
ENST00000293217.10:c.261G>A MANE Select ENSP00000293217.4:p.Trp87Ter
NM_001185039.1:c.147G>A NP_001171968.1:p.Trp49Ter
NM_001185039.2:c.147G>A NP_001171968.1:p.Trp49Ter
NM_004035.6:c.261G>A NP_004026.2:p.Trp87Ter
NM_007292.5:c.261G>A NP_009223.2:p.Trp87Ter
NM_007292.6:c.261G>A NP_009223.2:p.Trp87Ter
ENST00000293217.9:c.261G>A ENSP00000293217.4:p.Trp87Ter
ENST00000301608.8:c.261G>A ENSP00000301608.4:p.Trp87Ter
ENST00000301608.9:c.261G>A ENSP00000301608.4:p.Trp87Ter
ENST00000572047.5:c.435G>A ENSP00000459936.1:n.435G>A
ENST00000573078.5:c.261G>A ENSP00000458325.1:p.Trp87Ter
ENST00000576743.1:c.152G>A
ENST00000588176.5:c.261G>A ENSP00000466210.1:p.Trp87Ter
ENST00000589301.1:c.*219G>A ENSP00000468435.1:n.*219G>A
ENST00000591857.5:n.279G>A
ENST00000592329.1:n.233G>A
XM_011524868.1:c.-105G>A XP_011523170.1:n.-105G>A
XM_011524868.3:c.-105G>A XP_011523170.1:n.-105G>A
XM_011524869.1:c.14G>A XP_011523171.1:p.Gly5Asp
XM_011524869.3:c.14G>A XP_011523171.1:p.Gly5Asp