Canonical Allele Identifier: CA466436263

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99149252C>A , CM000671.2:g.99149252C>A	GRCh38
NC_000009.11:g.101911534C>A , CM000671.1:g.101911534C>A	GRCh37
NC_000009.10:g.100951355C>A	NCBI36
NG_007461.1:g.49123C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004612.4:c.1459C>A MANE Select	NP_004603.1:p.Arg487=
ENST00000374994.9:c.1459C>A MANE Select	ENSP00000364133.4:p.Arg487=
NM_001130916.1:c.1228C>A	NP_001124388.1:p.Arg410=
NM_001130916.2:c.1228C>A	NP_001124388.1:p.Arg410=
NM_001130916.3:c.1228C>A	NP_001124388.1:p.Arg410=
NM_001306210.1:c.1471C>A	NP_001293139.1:p.Arg491=
NM_001306210.2:c.1471C>A	NP_001293139.1:p.Arg491=
NM_004612.2:c.1459C>A	NP_004603.1:p.Arg487=
NM_004612.3:c.1459C>A	NP_004603.1:p.Arg487=
ENST00000374990.6:c.1228C>A	ENSP00000364129.2:p.Arg410=
ENST00000374994.8:c.1459C>A	ENSP00000364133.4:p.Arg487=
ENST00000547314.6:c.1252C>A	ENSP00000449934.2:p.Arg418=
ENST00000548365.6:c.*381C>A	ENSP00000448518.2:n.*381C>A
ENST00000549021.6:c.1021C>A	ENSP00000449028.2:p.Arg341=
ENST00000549766.5:c.*194C>A	ENSP00000446685.1:n.*194C>A
ENST00000550253.1:c.1252C>A	ENSP00000450052.1:p.Arg418=
ENST00000552516.5:c.1471C>A	ENSP00000447297.1:p.Arg491=
ENST00000552573.7:c.1264C>A	ENSP00000447182.3:p.Arg422=
ENST00000698941.1:c.1264C>A	ENSP00000514048.1:p.Arg422=
ENST00000698942.1:c.*1255C>A	ENSP00000514049.1:n.*1255C>A
ENST00000698943.1:n.1026C>A
XM_011518948.1:c.1264C>A	XP_011517250.1:p.Arg422=
XM_011518948.2:c.1264C>A	XP_011517250.1:p.Arg422=
XM_011518949.1:c.1252C>A	XP_011517251.1:p.Arg418=
XM_011518949.2:c.1252C>A	XP_011517251.1:p.Arg418=
XM_011518950.1:c.1021C>A	XP_011517252.1:p.Arg341=
XM_011518950.2:c.1021C>A	XP_011517252.1:p.Arg341=
XM_017015063.1:c.1264C>A	XP_016870552.1:p.Arg422=
XM_024447658.1:c.1252C>A	XP_024303426.1:p.Arg418=