Canonical Allele Identifier: CA2690967603
Gene: TGFBR1 HGNC NCBI

Linked Data

gnomAD v4: 9-99152011-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99152011T>C , CM000671.2:g.99152011T>C GRCh38
NC_000009.11:g.101914293T>C , CM000671.1:g.101914293T>C GRCh37
NC_000009.10:g.100954114T>C NCBI36
NG_007461.1:g.51882T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547314.6:c.*2706T>C ENSP00000449934.2:n.*2706T>C
ENST00000552573.7:c.*2706T>C ENSP00000447182.3:n.*2706T>C
ENST00000374994.9:c.*2706T>C MANE Select ENSP00000364133.4:n.*2706T>C
ENST00000374990.6:c.*2706T>C ENSP00000364129.2:n.*2706T>C
ENST00000374994.8:c.*2706T>C ENSP00000364133.4:n.*2706T>C
ENST00000552516.5:c.*2706T>C ENSP00000447297.1:n.*2706T>C
NM_001130916.1:c.*2706T>C NP_001124388.1:n.*2706T>C
NM_001130916.2:c.*2706T>C NP_001124388.1:n.*2706T>C
NM_001306210.1:c.*2706T>C NP_001293139.1:n.*2706T>C
NM_004612.2:c.*2706T>C NP_004603.1:n.*2706T>C
NM_004612.3:c.*2706T>C NP_004603.1:n.*2706T>C
XM_011518948.1:c.*2706T>C XP_011517250.1:n.*2706T>C
XM_011518949.1:c.*2706T>C XP_011517251.1:n.*2706T>C
XM_011518950.1:c.*2706T>C XP_011517252.1:n.*2706T>C
NM_004612.4:c.*2706T>C MANE Select NP_004603.1:n.*2706T>C
NM_001130916.3:c.*2706T>C NP_001124388.1:n.*2706T>C
NM_001306210.2:c.*2706T>C NP_001293139.1:n.*2706T>C