Canonical Allele Identifier: CA7167015
Community Standard Title: NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
Gene: TOGARAM1 HGNC NCBI
KLHL28 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.44963545T>C , CM000676.2:g.44963545T>C GRCh38
NC_000014.8:g.45432748T>C , CM000676.1:g.45432748T>C GRCh37
NC_000014.7:g.44502498T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001308120.2:c.1124T>C (TOGARAM1) MANE Select NP_001295049.1:p.Leu375Pro
ENST00000361462.7:c.1124T>C (TOGARAM1) MANE Select ENSP00000354917.2:p.Leu375Pro
NM_001308120.1:c.1124T>C (TOGARAM1) NP_001295049.1:p.Leu375Pro
NM_015091.2:c.1124T>C (TOGARAM1) NP_055906.2:p.Leu375Pro
NM_015091.3:c.1124T>C (TOGARAM1) NP_055906.2:p.Leu375Pro
NM_015091.4:c.1124T>C (TOGARAM1) NP_055906.2:p.Leu375Pro
NR_131765.1:n.1356T>C (TOGARAM1)
NR_131765.2:n.1356T>C (TOGARAM1)
ENST00000361462.6:c.1124T>C (TOGARAM1) ENSP00000354917.2:p.Leu375Pro
ENST00000361577.7:c.1124T>C (TOGARAM1) ENSP00000355045.3:p.Leu375Pro
ENST00000555607.1:n.1332T>C (TOGARAM1)
ENST00000555945.1:n.1327T>C (TOGARAM1)
ENST00000556239.5:c.-1+14653A>G (KLHL28) ENSP00000452591.1:n.-1+14653A>G
ENST00000557423.5:c.1124T>C (TOGARAM1) ENSP00000451829.1:p.Leu375Pro
XM_006720083.1:c.1124T>C (TOGARAM1) XP_006720146.1:p.Leu375Pro
XM_011536571.1:c.1124T>C (TOGARAM1) XP_011534873.1:p.Leu375Pro
XM_011536572.1:c.1124T>C (TOGARAM1) XP_011534874.1:p.Leu375Pro
XM_011536573.1:c.1124T>C (TOGARAM1) XP_011534875.1:p.Leu375Pro
XM_011536848.1:c.-1+14653A>G (KLHL28) XP_011535150.1:n.-1+14653A>G
XM_017021098.1:c.1124T>C (TOGARAM1) XP_016876587.1:p.Leu375Pro
XM_017021099.1:c.1124T>C (TOGARAM1) XP_016876588.1:p.Leu375Pro
XM_017021100.1:c.1124T>C (TOGARAM1) XP_016876589.1:p.Leu375Pro
XR_001750194.1:n.1327T>C (TOGARAM1)
XR_001750195.1:n.1327T>C (TOGARAM1)
XR_245674.1:n.1327T>C (TOGARAM1)
XR_943403.1:n.1327T>C (TOGARAM1)
XR_943403.2:n.1327T>C (TOGARAM1)
XR_943404.1:n.1327T>C (TOGARAM1)