Canonical Allele Identifier: CA466435280

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101908797C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146515C>A , CM000671.2:g.99146515C>A	GRCh38
NC_000009.11:g.101908797C>A , CM000671.1:g.101908797C>A	GRCh37
NC_000009.10:g.100948618C>A	NCBI36
NG_007461.1:g.46386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.954C>A	ENSP00000449934.2:p.Ser318=
ENST00000552573.7:c.966C>A	ENSP00000447182.3:p.Ser322=
ENST00000548365.6:c.*83C>A	ENSP00000448518.2:n.*83C>A
ENST00000549021.6:c.723C>A	ENSP00000449028.2:p.Ser241=
ENST00000698941.1:c.966C>A	ENSP00000514048.1:p.Ser322=
ENST00000698942.1:c.*957C>A	ENSP00000514049.1:n.*957C>A
ENST00000374994.9:c.1161C>A MANE Select	ENSP00000364133.4:p.Ser387=
ENST00000374990.6:c.930C>A	ENSP00000364129.2:p.Ser310=
ENST00000374994.8:c.1161C>A	ENSP00000364133.4:p.Ser387=
ENST00000549766.5:c.1143-1139C>A	ENSP00000446685.1:n.1143-1139C>A
ENST00000550253.1:c.954C>A	ENSP00000450052.1:p.Ser318=
ENST00000552516.5:c.1173C>A	ENSP00000447297.1:p.Ser391=
NM_001130916.1:c.930C>A	NP_001124388.1:p.Ser310=
NM_001130916.2:c.930C>A	NP_001124388.1:p.Ser310=
NM_001306210.1:c.1173C>A	NP_001293139.1:p.Ser391=
NM_004612.2:c.1161C>A	NP_004603.1:p.Ser387=
NM_004612.3:c.1161C>A	NP_004603.1:p.Ser387=
XM_011518948.1:c.966C>A	XP_011517250.1:p.Ser322=
XM_011518949.1:c.954C>A	XP_011517251.1:p.Ser318=
XM_011518950.1:c.723C>A	XP_011517252.1:p.Ser241=
XM_011518948.2:c.966C>A	XP_011517250.1:p.Ser322=
XM_011518949.2:c.954C>A	XP_011517251.1:p.Ser318=
XM_011518950.2:c.723C>A	XP_011517252.1:p.Ser241=
XM_017015063.1:c.966C>A	XP_016870552.1:p.Ser322=
XM_024447658.1:c.954C>A	XP_024303426.1:p.Ser318=
NM_004612.4:c.1161C>A MANE Select	NP_004603.1:p.Ser387=
NM_001130916.3:c.930C>A	NP_001124388.1:p.Ser310=
NM_001306210.2:c.1173C>A	NP_001293139.1:p.Ser391=