Canonical Allele Identifier: CA1867259962
Community Standard Title: NM_004612.4(TGFBR1):c.820A= (p.Thr274=)
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99142550A= , CM000671.2:g.99142550A= GRCh38
NC_000009.11:g.101904832A= , CM000671.1:g.101904832A= GRCh37
NC_000009.10:g.100944653A= NCBI36
NG_007461.1:g.42421A=

Transcript Alleles

HGVS Amino-acid Change
NM_004612.4:c.820A= MANE Select NP_004603.1:p.Thr274=
ENST00000374994.9:c.820A= MANE Select ENSP00000364133.4:p.Thr274=
NM_001130916.1:c.589A= NP_001124388.1:p.Thr197=
NM_001130916.2:c.589A= NP_001124388.1:p.Thr197=
NM_001130916.3:c.589A= NP_001124388.1:p.Thr197=
NM_001306210.1:c.832A= NP_001293139.1:p.Thr278=
NM_001306210.2:c.832A= NP_001293139.1:p.Thr278=
NM_004612.2:c.820A= NP_004603.1:p.Thr274=
NM_004612.3:c.820A= NP_004603.1:p.Thr274=
ENST00000374990.6:c.589A= ENSP00000364129.2:p.Thr197=
ENST00000374994.8:c.820A= ENSP00000364133.4:p.Thr274=
ENST00000547314.6:c.613A= ENSP00000449934.2:p.Thr205=
ENST00000548365.6:c.394A= ENSP00000448518.2:p.Thr132=
ENST00000549021.6:c.382A= ENSP00000449028.2:p.Thr128=
ENST00000549766.5:c.832A= ENSP00000446685.1:p.Thr278=
ENST00000550253.1:c.613A= ENSP00000450052.1:p.Thr205=
ENST00000552516.5:c.832A= ENSP00000447297.1:p.Thr278=
ENST00000552573.7:c.625A= ENSP00000447182.3:p.Thr209=
ENST00000698941.1:c.625A= ENSP00000514048.1:p.Thr209=
ENST00000698942.1:c.*616A= ENSP00000514049.1:n.*616A=
XM_011518948.1:c.625A= XP_011517250.1:p.Thr209=
XM_011518948.2:c.625A= XP_011517250.1:p.Thr209=
XM_011518949.1:c.613A= XP_011517251.1:p.Thr205=
XM_011518949.2:c.613A= XP_011517251.1:p.Thr205=
XM_011518950.1:c.382A= XP_011517252.1:p.Thr128=
XM_011518950.2:c.382A= XP_011517252.1:p.Thr128=
XM_017015063.1:c.625A= XP_016870552.1:p.Thr209=
XM_024447658.1:c.613A= XP_024303426.1:p.Thr205=