Canonical Allele Identifier: CA2785270500
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99151270dup , CM000671.2:g.99151270dup GRCh38
NC_000009.11:g.101913552dup , CM000671.1:g.101913552dup GRCh37
NC_000009.10:g.100953373dup NCBI36
NG_007461.1:g.51141dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*1965dup ENSP00000449934.2:n.*1965dup
ENST00000552573.7:c.*1965dup ENSP00000447182.3:n.*1965dup
ENST00000698941.1:c.*1965dup ENSP00000514048.1:n.*1965dup
ENST00000698943.1:n.3044dup
ENST00000374994.9:c.*1965dup MANE Select ENSP00000364133.4:n.*1965dup
ENST00000374990.6:c.*1965dup ENSP00000364129.2:n.*1965dup
ENST00000374994.8:c.*1965dup ENSP00000364133.4:n.*1965dup
ENST00000552516.5:c.*1965dup ENSP00000447297.1:n.*1965dup
NM_001130916.1:c.*1965dup NP_001124388.1:n.*1965dup
NM_001130916.2:c.*1965dup NP_001124388.1:n.*1965dup
NM_001306210.1:c.*1965dup NP_001293139.1:n.*1965dup
NM_004612.2:c.*1965dup NP_004603.1:n.*1965dup
NM_004612.3:c.*1965dup NP_004603.1:n.*1965dup
XM_011518948.1:c.*1965dup XP_011517250.1:n.*1965dup
XM_011518949.1:c.*1965dup XP_011517251.1:n.*1965dup
XM_011518950.1:c.*1965dup XP_011517252.1:n.*1965dup
NM_004612.4:c.*1965dup MANE Select NP_004603.1:n.*1965dup
NM_001130916.3:c.*1965dup NP_001124388.1:n.*1965dup
NM_001306210.2:c.*1965dup NP_001293139.1:n.*1965dup