Canonical Allele Identifier: CA1867255778

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137964A= , CM000671.2:g.99137964A=	GRCh38
NC_000009.11:g.101900246A= , CM000671.1:g.101900246A=	GRCh37
NC_000009.10:g.100940067A=	NCBI36
NG_007461.1:g.37835A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.473A=	ENSP00000449934.2:p.Glu158=
ENST00000552573.7:c.485A=	ENSP00000447182.3:p.Glu162=
ENST00000548365.6:c.380-4572A=	ENSP00000448518.2:n.380-4572A=
ENST00000549021.6:c.242A=	ENSP00000449028.2:p.Glu81=
ENST00000698941.1:c.485A=	ENSP00000514048.1:p.Glu162=
ENST00000698942.1:c.*476A=	ENSP00000514049.1:n.*476A=
ENST00000374994.9:c.680A= MANE Select	ENSP00000364133.4:p.Glu227=
ENST00000374990.6:c.449A=	ENSP00000364129.2:p.Glu150=
ENST00000374994.8:c.680A=	ENSP00000364133.4:p.Glu227=
ENST00000549021.5:c.242A=	ENSP00000449028.1:p.Glu81=
ENST00000549766.5:c.692A=	ENSP00000446685.1:p.Glu231=
ENST00000550253.1:c.473A=	ENSP00000450052.1:p.Glu158=
ENST00000552516.5:c.692A=	ENSP00000447297.1:p.Glu231=
NM_001130916.1:c.449A=	NP_001124388.1:p.Glu150=
NM_001130916.2:c.449A=	NP_001124388.1:p.Glu150=
NM_001306210.1:c.692A=	NP_001293139.1:p.Glu231=
NM_004612.2:c.680A=	NP_004603.1:p.Glu227=
NM_004612.3:c.680A=	NP_004603.1:p.Glu227=
XM_011518948.1:c.485A=	XP_011517250.1:p.Glu162=
XM_011518949.1:c.473A=	XP_011517251.1:p.Glu158=
XM_011518950.1:c.242A=	XP_011517252.1:p.Glu81=
XM_011518948.2:c.485A=	XP_011517250.1:p.Glu162=
XM_011518949.2:c.473A=	XP_011517251.1:p.Glu158=
XM_011518950.2:c.242A=	XP_011517252.1:p.Glu81=
XM_017015063.1:c.485A=	XP_016870552.1:p.Glu162=
XM_024447658.1:c.473A=	XP_024303426.1:p.Glu158=
NM_004612.4:c.680A= MANE Select	NP_004603.1:p.Glu227=
NM_001130916.3:c.449A=	NP_001124388.1:p.Glu150=
NM_001306210.2:c.692A=	NP_001293139.1:p.Glu231=