Canonical Allele Identifier: CA2543749631
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99153682A>G , CM000671.2:g.99153682A>G GRCh38
NC_000009.11:g.101915964A>G , CM000671.1:g.101915964A>G GRCh37
NC_000009.10:g.100955785A>G NCBI36
NG_007461.1:g.53553A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*4377A>G ENSP00000449934.2:n.*4377A>G
ENST00000552573.7:c.*4377A>G ENSP00000447182.3:n.*4377A>G
ENST00000374994.9:c.*4377A>G MANE Select ENSP00000364133.4:n.*4377A>G
ENST00000374994.8:c.*4377A>G ENSP00000364133.4:n.*4377A>G
NM_001130916.1:c.*4377A>G NP_001124388.1:n.*4377A>G
NM_001130916.2:c.*4377A>G NP_001124388.1:n.*4377A>G
NM_001306210.1:c.*4377A>G NP_001293139.1:n.*4377A>G
NM_004612.2:c.*4377A>G NP_004603.1:n.*4377A>G
NM_004612.3:c.*4377A>G NP_004603.1:n.*4377A>G
XM_011518948.1:c.*4377A>G XP_011517250.1:n.*4377A>G
XM_011518949.1:c.*4377A>G XP_011517251.1:n.*4377A>G
XM_011518950.1:c.*4377A>G XP_011517252.1:n.*4377A>G
NM_004612.4:c.*4377A>G MANE Select NP_004603.1:n.*4377A>G
NM_001130916.3:c.*4377A>G NP_001124388.1:n.*4377A>G
NM_001306210.2:c.*4377A>G NP_001293139.1:n.*4377A>G