Canonical Allele Identifier: CA1867263793

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146498G= , CM000671.2:g.99146498G=	GRCh38
NC_000009.11:g.101908780G= , CM000671.1:g.101908780G=	GRCh37
NC_000009.10:g.100948601G=	NCBI36
NG_007461.1:g.46369G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.937G=	ENSP00000449934.2:p.Glu313=
ENST00000552573.7:c.949G=	ENSP00000447182.3:p.Glu317=
ENST00000548365.6:c.*66G=	ENSP00000448518.2:n.*66G=
ENST00000549021.6:c.706G=	ENSP00000449028.2:p.Glu236=
ENST00000698941.1:c.949G=	ENSP00000514048.1:p.Glu317=
ENST00000698942.1:c.*940G=	ENSP00000514049.1:n.*940G=
ENST00000374994.9:c.1144G= MANE Select	ENSP00000364133.4:p.Glu382=
ENST00000374990.6:c.913G=	ENSP00000364129.2:p.Glu305=
ENST00000374994.8:c.1144G=	ENSP00000364133.4:p.Glu382=
ENST00000549766.5:c.1143-1156G=	ENSP00000446685.1:n.1143-1156G=
ENST00000550253.1:c.937G=	ENSP00000450052.1:p.Glu313=
ENST00000552516.5:c.1156G=	ENSP00000447297.1:p.Glu386=
NM_001130916.1:c.913G=	NP_001124388.1:p.Glu305=
NM_001130916.2:c.913G=	NP_001124388.1:p.Glu305=
NM_001306210.1:c.1156G=	NP_001293139.1:p.Glu386=
NM_004612.2:c.1144G=	NP_004603.1:p.Glu382=
NM_004612.3:c.1144G=	NP_004603.1:p.Glu382=
XM_011518948.1:c.949G=	XP_011517250.1:p.Glu317=
XM_011518949.1:c.937G=	XP_011517251.1:p.Glu313=
XM_011518950.1:c.706G=	XP_011517252.1:p.Glu236=
XM_011518948.2:c.949G=	XP_011517250.1:p.Glu317=
XM_011518949.2:c.937G=	XP_011517251.1:p.Glu313=
XM_011518950.2:c.706G=	XP_011517252.1:p.Glu236=
XM_017015063.1:c.949G=	XP_016870552.1:p.Glu317=
XM_024447658.1:c.937G=	XP_024303426.1:p.Glu313=
NM_004612.4:c.1144G= MANE Select	NP_004603.1:p.Glu382=
NM_001130916.3:c.913G=	NP_001124388.1:p.Glu305=
NM_001306210.2:c.1156G=	NP_001293139.1:p.Glu386=