Canonical Allele Identifier: CA374229768
Gene: TGFBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 921513
ClinVar RCV Id: RCV001180958
dbSNP Id: rs1827490717
gnomAD v3: 9-99137998-A-C
gnomAD v4: 9-99137998-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137998A>C , CM000671.2:g.99137998A>C GRCh38
NC_000009.11:g.101900280A>C , CM000671.1:g.101900280A>C GRCh37
NC_000009.10:g.100940101A>C NCBI36
NG_007461.1:g.37869A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.507A>C ENSP00000449934.2:p.Glu169Asp
ENST00000552573.7:c.519A>C ENSP00000447182.3:p.Glu173Asp
ENST00000548365.6:c.380-4538A>C ENSP00000448518.2:n.380-4538A>C
ENST00000549021.6:c.276A>C ENSP00000449028.2:p.Glu92Asp
ENST00000698941.1:c.519A>C ENSP00000514048.1:p.Glu173Asp
ENST00000698942.1:c.*510A>C ENSP00000514049.1:n.*510A>C
ENST00000374994.9:c.714A>C MANE Select ENSP00000364133.4:p.Glu238Asp
ENST00000374990.6:c.483A>C ENSP00000364129.2:p.Glu161Asp
ENST00000374994.8:c.714A>C ENSP00000364133.4:p.Glu238Asp
ENST00000549021.5:c.276A>C ENSP00000449028.1:p.Glu92Asp
ENST00000549766.5:c.726A>C ENSP00000446685.1:p.Glu242Asp
ENST00000550253.1:c.507A>C ENSP00000450052.1:p.Glu169Asp
ENST00000552516.5:c.726A>C ENSP00000447297.1:p.Glu242Asp
NM_001130916.1:c.483A>C NP_001124388.1:p.Glu161Asp
NM_001130916.2:c.483A>C NP_001124388.1:p.Glu161Asp
NM_001306210.1:c.726A>C NP_001293139.1:p.Glu242Asp
NM_004612.2:c.714A>C NP_004603.1:p.Glu238Asp
NM_004612.3:c.714A>C NP_004603.1:p.Glu238Asp
XM_011518948.1:c.519A>C XP_011517250.1:p.Glu173Asp
XM_011518949.1:c.507A>C XP_011517251.1:p.Glu169Asp
XM_011518950.1:c.276A>C XP_011517252.1:p.Glu92Asp
XM_011518948.2:c.519A>C XP_011517250.1:p.Glu173Asp
XM_011518949.2:c.507A>C XP_011517251.1:p.Glu169Asp
XM_011518950.2:c.276A>C XP_011517252.1:p.Glu92Asp
XM_017015063.1:c.519A>C XP_016870552.1:p.Glu173Asp
XM_024447658.1:c.507A>C XP_024303426.1:p.Glu169Asp
NM_004612.4:c.714A>C MANE Select NP_004603.1:p.Glu238Asp
NM_001130916.3:c.483A>C NP_001124388.1:p.Glu161Asp
NM_001306210.2:c.726A>C NP_001293139.1:p.Glu242Asp