Canonical Allele Identifier: CA10587687
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99147700_99147701dup , CM000671.2:g.99147700_99147701dup GRCh38
NC_000009.11:g.101909982_101909983dup , CM000671.1:g.101909982_101909983dup GRCh37
NC_000009.10:g.100949803_100949804dup NCBI36
NG_007461.1:g.47571_47572dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.1095_1096dup ENSP00000449934.2:p.Asp366ValfsTer8
ENST00000552573.7:c.1107_1108dup ENSP00000447182.3:p.Asp370ValfsTer8
ENST00000548365.6:c.*224_*225dup ENSP00000448518.2:n.*224_*225dup
ENST00000549021.6:c.864_865dup ENSP00000449028.2:p.Asp289ValfsTer8
ENST00000698941.1:c.1107_1108dup ENSP00000514048.1:p.Asp370ValfsTer8
ENST00000698942.1:c.*1098_*1099dup ENSP00000514049.1:n.*1098_*1099dup
ENST00000698943.1:n.869_870dup
ENST00000374994.9:c.1302_1303dup MANE Select ENSP00000364133.4:p.Asp435ValfsTer8
ENST00000374990.6:c.1071_1072dup ENSP00000364129.2:p.Asp358ValfsTer8
ENST00000374994.8:c.1302_1303dup ENSP00000364133.4:p.Asp435ValfsTer8
ENST00000549766.5:c.*37_*38dup ENSP00000446685.1:n.*37_*38dup
ENST00000550253.1:c.1095_1096dup ENSP00000450052.1:p.Asp366ValfsTer8
ENST00000552516.5:c.1314_1315dup ENSP00000447297.1:p.Asp439ValfsTer8
NM_001130916.1:c.1071_1072dup NP_001124388.1:p.Asp358ValfsTer8
NM_001130916.2:c.1071_1072dup NP_001124388.1:p.Asp358ValfsTer8
NM_001306210.1:c.1314_1315dup NP_001293139.1:p.Asp439ValfsTer8
NM_004612.2:c.1302_1303dup NP_004603.1:p.Asp435ValfsTer8
NM_004612.3:c.1302_1303dup NP_004603.1:p.Asp435ValfsTer8
XM_011518948.1:c.1107_1108dup XP_011517250.1:p.Asp370ValfsTer8
XM_011518949.1:c.1095_1096dup XP_011517251.1:p.Asp366ValfsTer8
XM_011518950.1:c.864_865dup XP_011517252.1:p.Asp289ValfsTer8
XM_011518948.2:c.1107_1108dup XP_011517250.1:p.Asp370ValfsTer8
XM_011518949.2:c.1095_1096dup XP_011517251.1:p.Asp366ValfsTer8
XM_011518950.2:c.864_865dup XP_011517252.1:p.Asp289ValfsTer8
XM_017015063.1:c.1107_1108dup XP_016870552.1:p.Asp370ValfsTer8
XM_024447658.1:c.1095_1096dup XP_024303426.1:p.Asp366ValfsTer8
NM_004612.4:c.1302_1303dup MANE Select NP_004603.1:p.Asp435ValfsTer8
NM_001130916.3:c.1071_1072dup NP_001124388.1:p.Asp358ValfsTer8
NM_001306210.2:c.1314_1315dup NP_001293139.1:p.Asp439ValfsTer8