Canonical Allele Identifier: CA259611914
Community Standard Title: NM_001308120.2(TOGARAM1):c.3619C>T (p.Arg1207Ter)
Gene: TOGARAM1 HGNC NCBI
KLHL28 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45028290C>T , CM000676.2:g.45028290C>T GRCh38
NC_000014.8:g.45497493C>T , CM000676.1:g.45497493C>T GRCh37
NC_000014.7:g.44567243C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001308120.2:c.3619C>T (TOGARAM1) MANE Select NP_001295049.1:p.Arg1207Ter
ENST00000361462.7:c.3619C>T (TOGARAM1) MANE Select ENSP00000354917.2:p.Arg1207Ter
NM_001308120.1:c.3619C>T (TOGARAM1) NP_001295049.1:p.Arg1207Ter
NM_015091.2:c.3619C>T (TOGARAM1) NP_055906.2:p.Arg1207Ter
NM_015091.3:c.3619C>T (TOGARAM1) NP_055906.2:p.Arg1207Ter
NM_015091.4:c.3619C>T (TOGARAM1) NP_055906.2:p.Arg1207Ter
NR_131765.1:n.3682C>T (TOGARAM1)
NR_131765.2:n.3682C>T (TOGARAM1)
ENST00000361462.6:c.3619C>T (TOGARAM1) ENSP00000354917.2:p.Arg1207Ter
ENST00000361577.7:c.3619C>T (TOGARAM1) ENSP00000355045.3:p.Arg1207Ter
ENST00000553817.1:n.207+13826G>A (KLHL28)
ENST00000556105.1:n.570C>T (TOGARAM1)
ENST00000556239.5:c.-102+13826G>A (KLHL28) ENSP00000452591.1:n.-102+13826G>A
ENST00000557423.5:c.*462C>T (TOGARAM1) ENSP00000451829.1:n.*462C>T
XM_006720083.1:c.3619C>T (TOGARAM1) XP_006720146.1:p.Arg1207Ter
XM_011536571.1:c.3619C>T (TOGARAM1) XP_011534873.1:p.Arg1207Ter
XM_011536572.1:c.3619C>T (TOGARAM1) XP_011534874.1:p.Arg1207Ter
XM_017021098.1:c.3529C>T (TOGARAM1) XP_016876587.1:p.Arg1177Ter
XM_017021099.1:c.3313C>T (TOGARAM1) XP_016876588.1:p.Arg1105Ter
XR_001750194.1:n.3822C>T (TOGARAM1)
XR_001750195.1:n.3589C>T (TOGARAM1)
XR_245674.1:n.3589C>T (TOGARAM1)