Canonical Allele Identifier: CA374232890
Gene: TGFBR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99146538C>A , CM000671.2:g.99146538C>A GRCh38
NC_000009.11:g.101908820C>A , CM000671.1:g.101908820C>A GRCh37
NC_000009.10:g.100948641C>A NCBI36
NG_007461.1:g.46409C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.977C>A ENSP00000449934.2:p.Ser326Tyr
ENST00000552573.7:c.989C>A ENSP00000447182.3:p.Ser330Tyr
ENST00000548365.6:c.*106C>A ENSP00000448518.2:n.*106C>A
ENST00000549021.6:c.746C>A ENSP00000449028.2:p.Ser249Tyr
ENST00000698941.1:c.989C>A ENSP00000514048.1:p.Ser330Tyr
ENST00000698942.1:c.*980C>A ENSP00000514049.1:n.*980C>A
ENST00000374994.9:c.1184C>A MANE Select ENSP00000364133.4:p.Ser395Tyr
ENST00000374990.6:c.953C>A ENSP00000364129.2:p.Ser318Tyr
ENST00000374994.8:c.1184C>A ENSP00000364133.4:p.Ser395Tyr
ENST00000549766.5:c.1143-1116C>A ENSP00000446685.1:n.1143-1116C>A
ENST00000550253.1:c.977C>A ENSP00000450052.1:p.Ser326Tyr
ENST00000552516.5:c.1196C>A ENSP00000447297.1:p.Ser399Tyr
NM_001130916.1:c.953C>A NP_001124388.1:p.Ser318Tyr
NM_001130916.2:c.953C>A NP_001124388.1:p.Ser318Tyr
NM_001306210.1:c.1196C>A NP_001293139.1:p.Ser399Tyr
NM_004612.2:c.1184C>A NP_004603.1:p.Ser395Tyr
NM_004612.3:c.1184C>A NP_004603.1:p.Ser395Tyr
XM_011518948.1:c.989C>A XP_011517250.1:p.Ser330Tyr
XM_011518949.1:c.977C>A XP_011517251.1:p.Ser326Tyr
XM_011518950.1:c.746C>A XP_011517252.1:p.Ser249Tyr
XM_011518948.2:c.989C>A XP_011517250.1:p.Ser330Tyr
XM_011518949.2:c.977C>A XP_011517251.1:p.Ser326Tyr
XM_011518950.2:c.746C>A XP_011517252.1:p.Ser249Tyr
XM_017015063.1:c.989C>A XP_016870552.1:p.Ser330Tyr
XM_024447658.1:c.977C>A XP_024303426.1:p.Ser326Tyr
NM_004612.4:c.1184C>A MANE Select NP_004603.1:p.Ser395Tyr
NM_001130916.3:c.953C>A NP_001124388.1:p.Ser318Tyr
NM_001306210.2:c.1196C>A NP_001293139.1:p.Ser399Tyr