Canonical Allele Identifier: CA374229440
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1827484742

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137901T>A , CM000671.2:g.99137901T>A GRCh38
NC_000009.11:g.101900183T>A , CM000671.1:g.101900183T>A GRCh37
NC_000009.10:g.100940004T>A NCBI36
NG_007461.1:g.37772T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.410T>A ENSP00000449934.2:p.Val137Glu
ENST00000552573.7:c.422T>A ENSP00000447182.3:p.Val141Glu
ENST00000548365.6:c.380-4635T>A ENSP00000448518.2:n.380-4635T>A
ENST00000549021.6:c.179T>A ENSP00000449028.2:p.Val60Glu
ENST00000698941.1:c.422T>A ENSP00000514048.1:p.Val141Glu
ENST00000698942.1:c.*413T>A ENSP00000514049.1:n.*413T>A
ENST00000374994.9:c.617T>A MANE Select ENSP00000364133.4:p.Val206Glu
ENST00000374990.6:c.386T>A ENSP00000364129.2:p.Val129Glu
ENST00000374994.8:c.617T>A ENSP00000364133.4:p.Val206Glu
ENST00000549021.5:c.179T>A ENSP00000449028.1:p.Val60Glu
ENST00000549766.5:c.629T>A ENSP00000446685.1:p.Val210Glu
ENST00000550253.1:c.410T>A ENSP00000450052.1:p.Val137Glu
ENST00000552516.5:c.629T>A ENSP00000447297.1:p.Val210Glu
NM_001130916.1:c.386T>A NP_001124388.1:p.Val129Glu
NM_001130916.2:c.386T>A NP_001124388.1:p.Val129Glu
NM_001306210.1:c.629T>A NP_001293139.1:p.Val210Glu
NM_004612.2:c.617T>A NP_004603.1:p.Val206Glu
NM_004612.3:c.617T>A NP_004603.1:p.Val206Glu
XM_011518948.1:c.422T>A XP_011517250.1:p.Val141Glu
XM_011518949.1:c.410T>A XP_011517251.1:p.Val137Glu
XM_011518950.1:c.179T>A XP_011517252.1:p.Val60Glu
XM_011518948.2:c.422T>A XP_011517250.1:p.Val141Glu
XM_011518949.2:c.410T>A XP_011517251.1:p.Val137Glu
XM_011518950.2:c.179T>A XP_011517252.1:p.Val60Glu
XM_017015063.1:c.422T>A XP_016870552.1:p.Val141Glu
XM_024447658.1:c.410T>A XP_024303426.1:p.Val137Glu
NM_004612.4:c.617T>A MANE Select NP_004603.1:p.Val206Glu
NM_001130916.3:c.386T>A NP_001124388.1:p.Val129Glu
NM_001306210.2:c.629T>A NP_001293139.1:p.Val210Glu