Canonical Allele Identifier: CA1867255618
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137890G= , CM000671.2:g.99137890G= GRCh38
NC_000009.11:g.101900172G= , CM000671.1:g.101900172G= GRCh37
NC_000009.10:g.100939993G= NCBI36
NG_007461.1:g.37761G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.399G= ENSP00000449934.2:p.Ala133=
ENST00000552573.7:c.411G= ENSP00000447182.3:p.Ala137=
ENST00000548365.6:c.380-4646G= ENSP00000448518.2:n.380-4646G=
ENST00000549021.6:c.168G= ENSP00000449028.2:p.Ala56=
ENST00000698941.1:c.411G= ENSP00000514048.1:p.Ala137=
ENST00000698942.1:c.*402G= ENSP00000514049.1:n.*402G=
ENST00000374994.9:c.606G= MANE Select ENSP00000364133.4:p.Ala202=
ENST00000374990.6:c.375G= ENSP00000364129.2:p.Ala125=
ENST00000374994.8:c.606G= ENSP00000364133.4:p.Ala202=
ENST00000549021.5:c.168G= ENSP00000449028.1:p.Ala56=
ENST00000549766.5:c.618G= ENSP00000446685.1:p.Ala206=
ENST00000550253.1:c.399G= ENSP00000450052.1:p.Ala133=
ENST00000552516.5:c.618G= ENSP00000447297.1:p.Ala206=
NM_001130916.1:c.375G= NP_001124388.1:p.Ala125=
NM_001130916.2:c.375G= NP_001124388.1:p.Ala125=
NM_001306210.1:c.618G= NP_001293139.1:p.Ala206=
NM_004612.2:c.606G= NP_004603.1:p.Ala202=
NM_004612.3:c.606G= NP_004603.1:p.Ala202=
XM_011518948.1:c.411G= XP_011517250.1:p.Ala137=
XM_011518949.1:c.399G= XP_011517251.1:p.Ala133=
XM_011518950.1:c.168G= XP_011517252.1:p.Ala56=
XM_011518948.2:c.411G= XP_011517250.1:p.Ala137=
XM_011518949.2:c.399G= XP_011517251.1:p.Ala133=
XM_011518950.2:c.168G= XP_011517252.1:p.Ala56=
XM_017015063.1:c.411G= XP_016870552.1:p.Ala137=
XM_024447658.1:c.399G= XP_024303426.1:p.Ala133=
NM_004612.4:c.606G= MANE Select NP_004603.1:p.Ala202=
NM_001130916.3:c.375G= NP_001124388.1:p.Ala125=
NM_001306210.2:c.618G= NP_001293139.1:p.Ala206=