Canonical Allele Identifier: CA374229435
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs2118709865

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137900G>A , CM000671.2:g.99137900G>A GRCh38
NC_000009.11:g.101900182G>A , CM000671.1:g.101900182G>A GRCh37
NC_000009.10:g.100940003G>A NCBI36
NG_007461.1:g.37771G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000547314.6:c.409G>A ENSP00000449934.2:p.Val137Met
ENST00000552573.7:c.421G>A ENSP00000447182.3:p.Val141Met
ENST00000548365.6:c.380-4636G>A ENSP00000448518.2:n.380-4636G>A
ENST00000549021.6:c.178G>A ENSP00000449028.2:p.Val60Met
ENST00000698941.1:c.421G>A ENSP00000514048.1:p.Val141Met
ENST00000698942.1:c.*412G>A ENSP00000514049.1:n.*412G>A
ENST00000374994.9:c.616G>A MANE Select ENSP00000364133.4:p.Val206Met
ENST00000374990.6:c.385G>A ENSP00000364129.2:p.Val129Met
ENST00000374994.8:c.616G>A ENSP00000364133.4:p.Val206Met
ENST00000549021.5:c.178G>A ENSP00000449028.1:p.Val60Met
ENST00000549766.5:c.628G>A ENSP00000446685.1:p.Val210Met
ENST00000550253.1:c.409G>A ENSP00000450052.1:p.Val137Met
ENST00000552516.5:c.628G>A ENSP00000447297.1:p.Val210Met
NM_001130916.1:c.385G>A NP_001124388.1:p.Val129Met
NM_001130916.2:c.385G>A NP_001124388.1:p.Val129Met
NM_001306210.1:c.628G>A NP_001293139.1:p.Val210Met
NM_004612.2:c.616G>A NP_004603.1:p.Val206Met
NM_004612.3:c.616G>A NP_004603.1:p.Val206Met
XM_011518948.1:c.421G>A XP_011517250.1:p.Val141Met
XM_011518949.1:c.409G>A XP_011517251.1:p.Val137Met
XM_011518950.1:c.178G>A XP_011517252.1:p.Val60Met
XM_011518948.2:c.421G>A XP_011517250.1:p.Val141Met
XM_011518949.2:c.409G>A XP_011517251.1:p.Val137Met
XM_011518950.2:c.178G>A XP_011517252.1:p.Val60Met
XM_017015063.1:c.421G>A XP_016870552.1:p.Val141Met
XM_024447658.1:c.409G>A XP_024303426.1:p.Val137Met
NM_004612.4:c.616G>A MANE Select NP_004603.1:p.Val206Met
NM_001130916.3:c.385G>A NP_001124388.1:p.Val129Met
NM_001306210.2:c.628G>A NP_001293139.1:p.Val210Met