Canonical Allele Identifier: CA374229438
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs2118709865
gnomAD v3: 9-99137900-G-T
gnomAD v4: 9-99137900-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137900G>T , CM000671.2:g.99137900G>T GRCh38
NC_000009.11:g.101900182G>T , CM000671.1:g.101900182G>T GRCh37
NC_000009.10:g.100940003G>T NCBI36
NG_007461.1:g.37771G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.409G>T ENSP00000449934.2:p.Val137Leu
ENST00000552573.7:c.421G>T ENSP00000447182.3:p.Val141Leu
ENST00000548365.6:c.380-4636G>T ENSP00000448518.2:n.380-4636G>T
ENST00000549021.6:c.178G>T ENSP00000449028.2:p.Val60Leu
ENST00000698941.1:c.421G>T ENSP00000514048.1:p.Val141Leu
ENST00000698942.1:c.*412G>T ENSP00000514049.1:n.*412G>T
ENST00000374994.9:c.616G>T MANE Select ENSP00000364133.4:p.Val206Leu
ENST00000374990.6:c.385G>T ENSP00000364129.2:p.Val129Leu
ENST00000374994.8:c.616G>T ENSP00000364133.4:p.Val206Leu
ENST00000549021.5:c.178G>T ENSP00000449028.1:p.Val60Leu
ENST00000549766.5:c.628G>T ENSP00000446685.1:p.Val210Leu
ENST00000550253.1:c.409G>T ENSP00000450052.1:p.Val137Leu
ENST00000552516.5:c.628G>T ENSP00000447297.1:p.Val210Leu
NM_001130916.1:c.385G>T NP_001124388.1:p.Val129Leu
NM_001130916.2:c.385G>T NP_001124388.1:p.Val129Leu
NM_001306210.1:c.628G>T NP_001293139.1:p.Val210Leu
NM_004612.2:c.616G>T NP_004603.1:p.Val206Leu
NM_004612.3:c.616G>T NP_004603.1:p.Val206Leu
XM_011518948.1:c.421G>T XP_011517250.1:p.Val141Leu
XM_011518949.1:c.409G>T XP_011517251.1:p.Val137Leu
XM_011518950.1:c.178G>T XP_011517252.1:p.Val60Leu
XM_011518948.2:c.421G>T XP_011517250.1:p.Val141Leu
XM_011518949.2:c.409G>T XP_011517251.1:p.Val137Leu
XM_011518950.2:c.178G>T XP_011517252.1:p.Val60Leu
XM_017015063.1:c.421G>T XP_016870552.1:p.Val141Leu
XM_024447658.1:c.409G>T XP_024303426.1:p.Val137Leu
NM_004612.4:c.616G>T MANE Select NP_004603.1:p.Val206Leu
NM_001130916.3:c.385G>T NP_001124388.1:p.Val129Leu
NM_001306210.2:c.628G>T NP_001293139.1:p.Val210Leu