Canonical Allele Identifier: CA374229773

Gene: TGFBR1

Linked Data

• dbSNP Id: rs2118717103
• MyVariant Identifiers: chr9:g.101900281G>T (hg19) ; chr9:g.99137999G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.508G>T	ENSP00000449934.2:p.Glu170Ter
ENST00000552573.7:c.520G>T	ENSP00000447182.3:p.Glu174Ter
ENST00000548365.6:c.380-4537G>T	ENSP00000448518.2:n.380-4537G>T
ENST00000549021.6:c.277G>T	ENSP00000449028.2:p.Glu93Ter
ENST00000698941.1:c.520G>T	ENSP00000514048.1:p.Glu174Ter
ENST00000698942.1:c.*511G>T	ENSP00000514049.1:n.*511G>T
ENST00000374994.9:c.715G>T MANE Select	ENSP00000364133.4:p.Glu239Ter
ENST00000374990.6:c.484G>T	ENSP00000364129.2:p.Glu162Ter
ENST00000374994.8:c.715G>T	ENSP00000364133.4:p.Glu239Ter
ENST00000549021.5:c.277G>T	ENSP00000449028.1:p.Glu93Ter
ENST00000549766.5:c.727G>T	ENSP00000446685.1:p.Glu243Ter
ENST00000550253.1:c.508G>T	ENSP00000450052.1:p.Glu170Ter
ENST00000552516.5:c.727G>T	ENSP00000447297.1:p.Glu243Ter
NM_001130916.1:c.484G>T	NP_001124388.1:p.Glu162Ter
NM_001130916.2:c.484G>T	NP_001124388.1:p.Glu162Ter
NM_001306210.1:c.727G>T	NP_001293139.1:p.Glu243Ter
NM_004612.2:c.715G>T	NP_004603.1:p.Glu239Ter
NM_004612.3:c.715G>T	NP_004603.1:p.Glu239Ter
XM_011518948.1:c.520G>T	XP_011517250.1:p.Glu174Ter
XM_011518949.1:c.508G>T	XP_011517251.1:p.Glu170Ter
XM_011518950.1:c.277G>T	XP_011517252.1:p.Glu93Ter
XM_011518948.2:c.520G>T	XP_011517250.1:p.Glu174Ter
XM_011518949.2:c.508G>T	XP_011517251.1:p.Glu170Ter
XM_011518950.2:c.277G>T	XP_011517252.1:p.Glu93Ter
XM_017015063.1:c.520G>T	XP_016870552.1:p.Glu174Ter
XM_024447658.1:c.508G>T	XP_024303426.1:p.Glu170Ter
NM_004612.4:c.715G>T MANE Select	NP_004603.1:p.Glu239Ter
NM_001130916.3:c.484G>T	NP_001124388.1:p.Glu162Ter
NM_001306210.2:c.727G>T	NP_001293139.1:p.Glu243Ter