Canonical Allele Identifier: CA374229761

Gene: TGFBR1

Linked Data

• dbSNP Id: rs2118716928
• MyVariant Identifiers: chr9:g.101900278G>C (hg19) ; chr9:g.99137996G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137996G>C , CM000671.2:g.99137996G>C	GRCh38
NC_000009.11:g.101900278G>C , CM000671.1:g.101900278G>C	GRCh37
NC_000009.10:g.100940099G>C	NCBI36
NG_007461.1:g.37867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.505G>C	ENSP00000449934.2:p.Glu169Gln
ENST00000552573.7:c.517G>C	ENSP00000447182.3:p.Glu173Gln
ENST00000548365.6:c.380-4540G>C	ENSP00000448518.2:n.380-4540G>C
ENST00000549021.6:c.274G>C	ENSP00000449028.2:p.Glu92Gln
ENST00000698941.1:c.517G>C	ENSP00000514048.1:p.Glu173Gln
ENST00000698942.1:c.*508G>C	ENSP00000514049.1:n.*508G>C
ENST00000374994.9:c.712G>C MANE Select	ENSP00000364133.4:p.Glu238Gln
ENST00000374990.6:c.481G>C	ENSP00000364129.2:p.Glu161Gln
ENST00000374994.8:c.712G>C	ENSP00000364133.4:p.Glu238Gln
ENST00000549021.5:c.274G>C	ENSP00000449028.1:p.Glu92Gln
ENST00000549766.5:c.724G>C	ENSP00000446685.1:p.Glu242Gln
ENST00000550253.1:c.505G>C	ENSP00000450052.1:p.Glu169Gln
ENST00000552516.5:c.724G>C	ENSP00000447297.1:p.Glu242Gln
NM_001130916.1:c.481G>C	NP_001124388.1:p.Glu161Gln
NM_001130916.2:c.481G>C	NP_001124388.1:p.Glu161Gln
NM_001306210.1:c.724G>C	NP_001293139.1:p.Glu242Gln
NM_004612.2:c.712G>C	NP_004603.1:p.Glu238Gln
NM_004612.3:c.712G>C	NP_004603.1:p.Glu238Gln
XM_011518948.1:c.517G>C	XP_011517250.1:p.Glu173Gln
XM_011518949.1:c.505G>C	XP_011517251.1:p.Glu169Gln
XM_011518950.1:c.274G>C	XP_011517252.1:p.Glu92Gln
XM_011518948.2:c.517G>C	XP_011517250.1:p.Glu173Gln
XM_011518949.2:c.505G>C	XP_011517251.1:p.Glu169Gln
XM_011518950.2:c.274G>C	XP_011517252.1:p.Glu92Gln
XM_017015063.1:c.517G>C	XP_016870552.1:p.Glu173Gln
XM_024447658.1:c.505G>C	XP_024303426.1:p.Glu169Gln
NM_004612.4:c.712G>C MANE Select	NP_004603.1:p.Glu238Gln
NM_001130916.3:c.481G>C	NP_001124388.1:p.Glu161Gln
NM_001306210.2:c.724G>C	NP_001293139.1:p.Glu242Gln