Canonical Allele Identifier: CA1867260242
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99142699C= , CM000671.2:g.99142699C= GRCh38
NC_000009.11:g.101904981C= , CM000671.1:g.101904981C= GRCh37
NC_000009.10:g.100944802C= NCBI36
NG_007461.1:g.42570C=

Transcript Alleles

HGVS Amino-acid change
ENST00000547314.6:c.762C= ENSP00000449934.2:p.Thr254=
ENST00000552573.7:c.774C= ENSP00000447182.3:p.Thr258=
ENST00000548365.6:c.543C= ENSP00000448518.2:p.Thr181=
ENST00000549021.6:c.531C= ENSP00000449028.2:p.Thr177=
ENST00000698941.1:c.774C= ENSP00000514048.1:p.Thr258=
ENST00000698942.1:c.*765C= ENSP00000514049.1:n.*765C=
ENST00000374994.9:c.969C= MANE Select ENSP00000364133.4:p.Thr323=
ENST00000374990.6:c.738C= ENSP00000364129.2:p.Thr246=
ENST00000374994.8:c.969C= ENSP00000364133.4:p.Thr323=
ENST00000549766.5:c.981C= ENSP00000446685.1:p.Thr327=
ENST00000550253.1:c.762C= ENSP00000450052.1:p.Thr254=
ENST00000552516.5:c.981C= ENSP00000447297.1:p.Thr327=
NM_001130916.1:c.738C= NP_001124388.1:p.Thr246=
NM_001130916.2:c.738C= NP_001124388.1:p.Thr246=
NM_001306210.1:c.981C= NP_001293139.1:p.Thr327=
NM_004612.2:c.969C= NP_004603.1:p.Thr323=
NM_004612.3:c.969C= NP_004603.1:p.Thr323=
XM_011518948.1:c.774C= XP_011517250.1:p.Thr258=
XM_011518949.1:c.762C= XP_011517251.1:p.Thr254=
XM_011518950.1:c.531C= XP_011517252.1:p.Thr177=
XM_011518948.2:c.774C= XP_011517250.1:p.Thr258=
XM_011518949.2:c.762C= XP_011517251.1:p.Thr254=
XM_011518950.2:c.531C= XP_011517252.1:p.Thr177=
XM_017015063.1:c.774C= XP_016870552.1:p.Thr258=
XM_024447658.1:c.762C= XP_024303426.1:p.Thr254=
NM_004612.4:c.969C= MANE Select NP_004603.1:p.Thr323=
NM_001130916.3:c.738C= NP_001124388.1:p.Thr246=
NM_001306210.2:c.981C= NP_001293139.1:p.Thr327=