Canonical Allele Identifier: CA1867260218
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99142683T= , CM000671.2:g.99142683T= GRCh38
NC_000009.11:g.101904965T= , CM000671.1:g.101904965T= GRCh37
NC_000009.10:g.100944786T= NCBI36
NG_007461.1:g.42554T=

Transcript Alleles

HGVS Amino-acid change
ENST00000547314.6:c.746T= ENSP00000449934.2:p.Met249=
ENST00000552573.7:c.758T= ENSP00000447182.3:p.Met253=
ENST00000548365.6:c.527T= ENSP00000448518.2:p.Met176=
ENST00000549021.6:c.515T= ENSP00000449028.2:p.Met172=
ENST00000698941.1:c.758T= ENSP00000514048.1:p.Met253=
ENST00000698942.1:c.*749T= ENSP00000514049.1:n.*749T=
ENST00000374994.9:c.953T= MANE Select ENSP00000364133.4:p.Met318=
ENST00000374990.6:c.722T= ENSP00000364129.2:p.Met241=
ENST00000374994.8:c.953T= ENSP00000364133.4:p.Met318=
ENST00000549766.5:c.965T= ENSP00000446685.1:p.Met322=
ENST00000550253.1:c.746T= ENSP00000450052.1:p.Met249=
ENST00000552516.5:c.965T= ENSP00000447297.1:p.Met322=
NM_001130916.1:c.722T= NP_001124388.1:p.Met241=
NM_001130916.2:c.722T= NP_001124388.1:p.Met241=
NM_001306210.1:c.965T= NP_001293139.1:p.Met322=
NM_004612.2:c.953T= NP_004603.1:p.Met318=
NM_004612.3:c.953T= NP_004603.1:p.Met318=
XM_011518948.1:c.758T= XP_011517250.1:p.Met253=
XM_011518949.1:c.746T= XP_011517251.1:p.Met249=
XM_011518950.1:c.515T= XP_011517252.1:p.Met172=
XM_011518948.2:c.758T= XP_011517250.1:p.Met253=
XM_011518949.2:c.746T= XP_011517251.1:p.Met249=
XM_011518950.2:c.515T= XP_011517252.1:p.Met172=
XM_017015063.1:c.758T= XP_016870552.1:p.Met253=
XM_024447658.1:c.746T= XP_024303426.1:p.Met249=
NM_004612.4:c.953T= MANE Select NP_004603.1:p.Met318=
NM_001130916.3:c.722T= NP_001124388.1:p.Met241=
NM_001306210.2:c.965T= NP_001293139.1:p.Met322=