Canonical Allele Identifier: CA374232652

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101908781A>G (hg19) ; chr9:g.99146499A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146499A>G , CM000671.2:g.99146499A>G	GRCh38
NC_000009.11:g.101908781A>G , CM000671.1:g.101908781A>G	GRCh37
NC_000009.10:g.100948602A>G	NCBI36
NG_007461.1:g.46370A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.938A>G	ENSP00000449934.2:p.Glu313Gly
ENST00000552573.7:c.950A>G	ENSP00000447182.3:p.Glu317Gly
ENST00000548365.6:c.*67A>G	ENSP00000448518.2:n.*67A>G
ENST00000549021.6:c.707A>G	ENSP00000449028.2:p.Glu236Gly
ENST00000698941.1:c.950A>G	ENSP00000514048.1:p.Glu317Gly
ENST00000698942.1:c.*941A>G	ENSP00000514049.1:n.*941A>G
ENST00000374994.9:c.1145A>G MANE Select	ENSP00000364133.4:p.Glu382Gly
ENST00000374990.6:c.914A>G	ENSP00000364129.2:p.Glu305Gly
ENST00000374994.8:c.1145A>G	ENSP00000364133.4:p.Glu382Gly
ENST00000549766.5:c.1143-1155A>G	ENSP00000446685.1:n.1143-1155A>G
ENST00000550253.1:c.938A>G	ENSP00000450052.1:p.Glu313Gly
ENST00000552516.5:c.1157A>G	ENSP00000447297.1:p.Glu386Gly
NM_001130916.1:c.914A>G	NP_001124388.1:p.Glu305Gly
NM_001130916.2:c.914A>G	NP_001124388.1:p.Glu305Gly
NM_001306210.1:c.1157A>G	NP_001293139.1:p.Glu386Gly
NM_004612.2:c.1145A>G	NP_004603.1:p.Glu382Gly
NM_004612.3:c.1145A>G	NP_004603.1:p.Glu382Gly
XM_011518948.1:c.950A>G	XP_011517250.1:p.Glu317Gly
XM_011518949.1:c.938A>G	XP_011517251.1:p.Glu313Gly
XM_011518950.1:c.707A>G	XP_011517252.1:p.Glu236Gly
XM_011518948.2:c.950A>G	XP_011517250.1:p.Glu317Gly
XM_011518949.2:c.938A>G	XP_011517251.1:p.Glu313Gly
XM_011518950.2:c.707A>G	XP_011517252.1:p.Glu236Gly
XM_017015063.1:c.950A>G	XP_016870552.1:p.Glu317Gly
XM_024447658.1:c.938A>G	XP_024303426.1:p.Glu313Gly
NM_004612.4:c.1145A>G MANE Select	NP_004603.1:p.Glu382Gly
NM_001130916.3:c.914A>G	NP_001124388.1:p.Glu305Gly
NM_001306210.2:c.1157A>G	NP_001293139.1:p.Glu386Gly