Canonical Allele Identifier: CA1867260234
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99142691G= , CM000671.2:g.99142691G= GRCh38
NC_000009.11:g.101904973G= , CM000671.1:g.101904973G= GRCh37
NC_000009.10:g.100944794G= NCBI36
NG_007461.1:g.42562G=

Transcript Alleles

HGVS Amino-acid change
ENST00000547314.6:c.754G= ENSP00000449934.2:p.Val252=
ENST00000552573.7:c.766G= ENSP00000447182.3:p.Val256=
ENST00000548365.6:c.535G= ENSP00000448518.2:p.Val179=
ENST00000549021.6:c.523G= ENSP00000449028.2:p.Val175=
ENST00000698941.1:c.766G= ENSP00000514048.1:p.Val256=
ENST00000698942.1:c.*757G= ENSP00000514049.1:n.*757G=
ENST00000374994.9:c.961G= MANE Select ENSP00000364133.4:p.Val321=
ENST00000374990.6:c.730G= ENSP00000364129.2:p.Val244=
ENST00000374994.8:c.961G= ENSP00000364133.4:p.Val321=
ENST00000549766.5:c.973G= ENSP00000446685.1:p.Val325=
ENST00000550253.1:c.754G= ENSP00000450052.1:p.Val252=
ENST00000552516.5:c.973G= ENSP00000447297.1:p.Val325=
NM_001130916.1:c.730G= NP_001124388.1:p.Val244=
NM_001130916.2:c.730G= NP_001124388.1:p.Val244=
NM_001306210.1:c.973G= NP_001293139.1:p.Val325=
NM_004612.2:c.961G= NP_004603.1:p.Val321=
NM_004612.3:c.961G= NP_004603.1:p.Val321=
XM_011518948.1:c.766G= XP_011517250.1:p.Val256=
XM_011518949.1:c.754G= XP_011517251.1:p.Val252=
XM_011518950.1:c.523G= XP_011517252.1:p.Val175=
XM_011518948.2:c.766G= XP_011517250.1:p.Val256=
XM_011518949.2:c.754G= XP_011517251.1:p.Val252=
XM_011518950.2:c.523G= XP_011517252.1:p.Val175=
XM_017015063.1:c.766G= XP_016870552.1:p.Val256=
XM_024447658.1:c.754G= XP_024303426.1:p.Val252=
NM_004612.4:c.961G= MANE Select NP_004603.1:p.Val321=
NM_001130916.3:c.730G= NP_001124388.1:p.Val244=
NM_001306210.2:c.973G= NP_001293139.1:p.Val325=