Canonical Allele Identifier: CA2835442099
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99151630C>T , CM000671.2:g.99151630C>T GRCh38
NC_000009.11:g.101913912C>T , CM000671.1:g.101913912C>T GRCh37
NC_000009.10:g.100953733C>T NCBI36
NG_007461.1:g.51501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*2325C>T ENSP00000449934.2:n.*2325C>T
ENST00000552573.7:c.*2325C>T ENSP00000447182.3:n.*2325C>T
ENST00000374994.9:c.*2325C>T MANE Select ENSP00000364133.4:n.*2325C>T
ENST00000374990.6:c.*2325C>T ENSP00000364129.2:n.*2325C>T
ENST00000374994.8:c.*2325C>T ENSP00000364133.4:n.*2325C>T
ENST00000552516.5:c.*2325C>T ENSP00000447297.1:n.*2325C>T
NM_001130916.1:c.*2325C>T NP_001124388.1:n.*2325C>T
NM_001130916.2:c.*2325C>T NP_001124388.1:n.*2325C>T
NM_001306210.1:c.*2325C>T NP_001293139.1:n.*2325C>T
NM_004612.2:c.*2325C>T NP_004603.1:n.*2325C>T
NM_004612.3:c.*2325C>T NP_004603.1:n.*2325C>T
XM_011518948.1:c.*2325C>T XP_011517250.1:n.*2325C>T
XM_011518949.1:c.*2325C>T XP_011517251.1:n.*2325C>T
XM_011518950.1:c.*2325C>T XP_011517252.1:n.*2325C>T
NM_004612.4:c.*2325C>T MANE Select NP_004603.1:n.*2325C>T
NM_001130916.3:c.*2325C>T NP_001124388.1:n.*2325C>T
NM_001306210.2:c.*2325C>T NP_001293139.1:n.*2325C>T