Canonical Allele Identifier: CA7167657
Community Standard Title: NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)
Gene: TOGARAM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45044647C>T , CM000676.2:g.45044647C>T GRCh38
NC_000014.8:g.45513850C>T , CM000676.1:g.45513850C>T GRCh37
NC_000014.7:g.44583600C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001308120.2:c.3931C>T MANE Select NP_001295049.1:p.Arg1311Cys
ENST00000361462.7:c.3931C>T MANE Select ENSP00000354917.2:p.Arg1311Cys
NM_001308120.1:c.3931C>T NP_001295049.1:p.Arg1311Cys
NM_015091.2:c.3931C>T NP_055906.2:p.Arg1311Cys
NM_015091.3:c.3931C>T NP_055906.2:p.Arg1311Cys
NM_015091.4:c.3931C>T NP_055906.2:p.Arg1311Cys
NR_131765.1:n.3994C>T
NR_131765.2:n.3994C>T
ENST00000361462.6:c.3931C>T ENSP00000354917.2:p.Arg1311Cys
ENST00000361577.7:c.3931C>T ENSP00000355045.3:p.Arg1311Cys
ENST00000557423.5:c.*774C>T ENSP00000451829.1:n.*774C>T
XM_011536571.1:c.3931C>T XP_011534873.1:p.Arg1311Cys
XM_011536572.1:c.3931C>T XP_011534874.1:p.Arg1311Cys
XM_017021098.1:c.3841C>T XP_016876587.1:p.Arg1281Cys
XM_017021099.1:c.3625C>T XP_016876588.1:p.Arg1209Cys
XR_001750194.1:n.4134C>T
XR_001750195.1:n.3901C>T