Canonical Allele Identifier: CA7167930
Community Standard Title: NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)
Gene: TOGARAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45073421C>T , CM000676.2:g.45073421C>T GRCh38
NC_000014.8:g.45542624C>T , CM000676.1:g.45542624C>T GRCh37
NC_000014.7:g.44612374C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001308120.2:c.5182C>T MANE Select NP_001295049.1:p.Arg1728Ter
ENST00000361462.7:c.5182C>T MANE Select ENSP00000354917.2:p.Arg1728Ter
NM_001308120.1:c.5182C>T NP_001295049.1:p.Arg1728Ter
NM_015091.2:c.5023C>T NP_055906.2:p.Arg1675Ter
NM_015091.3:c.5023C>T NP_055906.2:p.Arg1675Ter
NM_015091.4:c.5023C>T NP_055906.2:p.Arg1675Ter
NR_131765.1:n.5245C>T
NR_131765.2:n.5245C>T
ENST00000361462.6:c.5182C>T ENSP00000354917.2:p.Arg1728Ter
ENST00000361577.7:c.5023C>T ENSP00000355045.3:p.Arg1675Ter
ENST00000556823.1:c.328C>T ENSP00000450465.1:p.Arg110Ter
ENST00000557423.5:c.*2025C>T ENSP00000451829.1:n.*2025C>T
XM_011536571.1:c.*165C>T XP_011534873.1:n.*165C>T
XM_017021098.1:c.5092C>T XP_016876587.1:p.Arg1698Ter
XM_017021099.1:c.4876C>T XP_016876588.1:p.Arg1626Ter
XR_001750194.1:n.5509C>T
XR_001750195.1:n.5152C>T