Canonical Allele Identifier: CA374229396
Gene: TGFBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137887T>G , CM000671.2:g.99137887T>G GRCh38
NC_000009.11:g.101900169T>G , CM000671.1:g.101900169T>G GRCh37
NC_000009.10:g.100939990T>G NCBI36
NG_007461.1:g.37758T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.396T>G ENSP00000449934.2:p.Ile132Met
ENST00000552573.7:c.408T>G ENSP00000447182.3:p.Ile136Met
ENST00000548365.6:c.380-4649T>G ENSP00000448518.2:n.380-4649T>G
ENST00000549021.6:c.165T>G ENSP00000449028.2:p.Ile55Met
ENST00000698941.1:c.408T>G ENSP00000514048.1:p.Ile136Met
ENST00000698942.1:c.*399T>G ENSP00000514049.1:n.*399T>G
ENST00000374994.9:c.603T>G MANE Select ENSP00000364133.4:p.Ile201Met
ENST00000374990.6:c.372T>G ENSP00000364129.2:p.Ile124Met
ENST00000374994.8:c.603T>G ENSP00000364133.4:p.Ile201Met
ENST00000549021.5:c.165T>G ENSP00000449028.1:p.Ile55Met
ENST00000549766.5:c.615T>G ENSP00000446685.1:p.Ile205Met
ENST00000550253.1:c.396T>G ENSP00000450052.1:p.Ile132Met
ENST00000552516.5:c.615T>G ENSP00000447297.1:p.Ile205Met
NM_001130916.1:c.372T>G NP_001124388.1:p.Ile124Met
NM_001130916.2:c.372T>G NP_001124388.1:p.Ile124Met
NM_001306210.1:c.615T>G NP_001293139.1:p.Ile205Met
NM_004612.2:c.603T>G NP_004603.1:p.Ile201Met
NM_004612.3:c.603T>G NP_004603.1:p.Ile201Met
XM_011518948.1:c.408T>G XP_011517250.1:p.Ile136Met
XM_011518949.1:c.396T>G XP_011517251.1:p.Ile132Met
XM_011518950.1:c.165T>G XP_011517252.1:p.Ile55Met
XM_011518948.2:c.408T>G XP_011517250.1:p.Ile136Met
XM_011518949.2:c.396T>G XP_011517251.1:p.Ile132Met
XM_011518950.2:c.165T>G XP_011517252.1:p.Ile55Met
XM_017015063.1:c.408T>G XP_016870552.1:p.Ile136Met
XM_024447658.1:c.396T>G XP_024303426.1:p.Ile132Met
NM_004612.4:c.603T>G MANE Select NP_004603.1:p.Ile201Met
NM_001130916.3:c.372T>G NP_001124388.1:p.Ile124Met
NM_001306210.2:c.615T>G NP_001293139.1:p.Ile205Met