Canonical Allele Identifier: CA1630847900
Community Standard Title: NM_004612.4(TGFBR1):c.1255+24G=
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99146633G= , CM000671.2:g.99146633G= GRCh38
NC_000009.11:g.101908915G= , CM000671.1:g.101908915G= GRCh37
NC_000009.10:g.100948736G= NCBI36
NG_007461.1:g.46504G=

Transcript Alleles

HGVS Amino-acid Change
NM_004612.4:c.1255+24G= MANE Select NP_004603.1:n.1255+24G=
ENST00000374994.9:c.1255+24G= MANE Select ENSP00000364133.4:n.1255+24G=
NM_001130916.1:c.1024+24G= NP_001124388.1:n.1024+24G=
NM_001130916.2:c.1024+24G= NP_001124388.1:n.1024+24G=
NM_001130916.3:c.1024+24G= NP_001124388.1:n.1024+24G=
NM_001306210.1:c.1267+24G= NP_001293139.1:n.1267+24G=
NM_001306210.2:c.1267+24G= NP_001293139.1:n.1267+24G=
NM_004612.2:c.1255+24G= NP_004603.1:n.1255+24G=
NM_004612.3:c.1255+24G= NP_004603.1:n.1255+24G=
ENST00000374990.6:c.1024+24G= ENSP00000364129.2:n.1024+24G=
ENST00000374994.8:c.1255+24G= ENSP00000364133.4:n.1255+24G=
ENST00000547314.6:c.1048+24G= ENSP00000449934.2:n.1048+24G=
ENST00000548365.6:c.*177+24G= ENSP00000448518.2:n.*177+24G=
ENST00000549021.6:c.817+24G= ENSP00000449028.2:n.817+24G=
ENST00000549766.5:c.1143-1021G= ENSP00000446685.1:n.1143-1021G=
ENST00000550253.1:c.1048+24G= ENSP00000450052.1:n.1048+24G=
ENST00000552516.5:c.1267+24G= ENSP00000447297.1:n.1267+24G=
ENST00000552573.7:c.1060+24G= ENSP00000447182.3:n.1060+24G=
ENST00000698941.1:c.1060+24G= ENSP00000514048.1:n.1060+24G=
ENST00000698942.1:c.*1051+24G= ENSP00000514049.1:n.*1051+24G=
XM_011518948.1:c.1060+24G= XP_011517250.1:n.1060+24G=
XM_011518948.2:c.1060+24G= XP_011517250.1:n.1060+24G=
XM_011518949.1:c.1048+24G= XP_011517251.1:n.1048+24G=
XM_011518949.2:c.1048+24G= XP_011517251.1:n.1048+24G=
XM_011518950.1:c.817+24G= XP_011517252.1:n.817+24G=
XM_011518950.2:c.817+24G= XP_011517252.1:n.817+24G=
XM_017015063.1:c.1060+24G= XP_016870552.1:n.1060+24G=
XM_024447658.1:c.1048+24G= XP_024303426.1:n.1048+24G=