Canonical Allele Identifier: CA374229771
Gene: TGFBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2073964
ClinVar RCV Id: RCV002975956
dbSNP Id: rs2118717103

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137999G>A , CM000671.2:g.99137999G>A GRCh38
NC_000009.11:g.101900281G>A , CM000671.1:g.101900281G>A GRCh37
NC_000009.10:g.100940102G>A NCBI36
NG_007461.1:g.37870G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.508G>A ENSP00000449934.2:p.Glu170Lys
ENST00000552573.7:c.520G>A ENSP00000447182.3:p.Glu174Lys
ENST00000548365.6:c.380-4537G>A ENSP00000448518.2:n.380-4537G>A
ENST00000549021.6:c.277G>A ENSP00000449028.2:p.Glu93Lys
ENST00000698941.1:c.520G>A ENSP00000514048.1:p.Glu174Lys
ENST00000698942.1:c.*511G>A ENSP00000514049.1:n.*511G>A
ENST00000374994.9:c.715G>A MANE Select ENSP00000364133.4:p.Glu239Lys
ENST00000374990.6:c.484G>A ENSP00000364129.2:p.Glu162Lys
ENST00000374994.8:c.715G>A ENSP00000364133.4:p.Glu239Lys
ENST00000549021.5:c.277G>A ENSP00000449028.1:p.Glu93Lys
ENST00000549766.5:c.727G>A ENSP00000446685.1:p.Glu243Lys
ENST00000550253.1:c.508G>A ENSP00000450052.1:p.Glu170Lys
ENST00000552516.5:c.727G>A ENSP00000447297.1:p.Glu243Lys
NM_001130916.1:c.484G>A NP_001124388.1:p.Glu162Lys
NM_001130916.2:c.484G>A NP_001124388.1:p.Glu162Lys
NM_001306210.1:c.727G>A NP_001293139.1:p.Glu243Lys
NM_004612.2:c.715G>A NP_004603.1:p.Glu239Lys
NM_004612.3:c.715G>A NP_004603.1:p.Glu239Lys
XM_011518948.1:c.520G>A XP_011517250.1:p.Glu174Lys
XM_011518949.1:c.508G>A XP_011517251.1:p.Glu170Lys
XM_011518950.1:c.277G>A XP_011517252.1:p.Glu93Lys
XM_011518948.2:c.520G>A XP_011517250.1:p.Glu174Lys
XM_011518949.2:c.508G>A XP_011517251.1:p.Glu170Lys
XM_011518950.2:c.277G>A XP_011517252.1:p.Glu93Lys
XM_017015063.1:c.520G>A XP_016870552.1:p.Glu174Lys
XM_024447658.1:c.508G>A XP_024303426.1:p.Glu170Lys
NM_004612.4:c.715G>A MANE Select NP_004603.1:p.Glu239Lys
NM_001130916.3:c.484G>A NP_001124388.1:p.Glu162Lys
NM_001306210.2:c.727G>A NP_001293139.1:p.Glu243Lys