Canonical Allele Identifier: CA1867269293
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1827971325

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99151273A>G , CM000671.2:g.99151273A>G GRCh38
NC_000009.11:g.101913555A>G , CM000671.1:g.101913555A>G GRCh37
NC_000009.10:g.100953376A>G NCBI36
NG_007461.1:g.51144A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*1968A>G ENSP00000449934.2:n.*1968A>G
ENST00000552573.7:c.*1968A>G ENSP00000447182.3:n.*1968A>G
ENST00000698941.1:c.*1968A>G ENSP00000514048.1:n.*1968A>G
ENST00000698943.1:n.3047A>G
ENST00000374994.9:c.*1968A>G MANE Select ENSP00000364133.4:n.*1968A>G
ENST00000374990.6:c.*1968A>G ENSP00000364129.2:n.*1968A>G
ENST00000374994.8:c.*1968A>G ENSP00000364133.4:n.*1968A>G
ENST00000552516.5:c.*1968A>G ENSP00000447297.1:n.*1968A>G
NM_001130916.1:c.*1968A>G NP_001124388.1:n.*1968A>G
NM_001130916.2:c.*1968A>G NP_001124388.1:n.*1968A>G
NM_001306210.1:c.*1968A>G NP_001293139.1:n.*1968A>G
NM_004612.2:c.*1968A>G NP_004603.1:n.*1968A>G
NM_004612.3:c.*1968A>G NP_004603.1:n.*1968A>G
XM_011518948.1:c.*1968A>G XP_011517250.1:n.*1968A>G
XM_011518949.1:c.*1968A>G XP_011517251.1:n.*1968A>G
XM_011518950.1:c.*1968A>G XP_011517252.1:n.*1968A>G
NM_004612.4:c.*1968A>G MANE Select NP_004603.1:n.*1968A>G
NM_001130916.3:c.*1968A>G NP_001124388.1:n.*1968A>G
NM_001306210.2:c.*1968A>G NP_001293139.1:n.*1968A>G