Canonical Allele Identifier: CA1867263867

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146553A= , CM000671.2:g.99146553A=	GRCh38
NC_000009.11:g.101908835A= , CM000671.1:g.101908835A=	GRCh37
NC_000009.10:g.100948656A=	NCBI36
NG_007461.1:g.46424A=

Transcript Alleles

HGVS	Amino-acid Change
NM_004612.4:c.1199A= MANE Select	NP_004603.1:p.Asp400=
ENST00000374994.9:c.1199A= MANE Select	ENSP00000364133.4:p.Asp400=
NM_001130916.1:c.968A=	NP_001124388.1:p.Asp323=
NM_001130916.2:c.968A=	NP_001124388.1:p.Asp323=
NM_001130916.3:c.968A=	NP_001124388.1:p.Asp323=
NM_001306210.1:c.1211A=	NP_001293139.1:p.Asp404=
NM_001306210.2:c.1211A=	NP_001293139.1:p.Asp404=
NM_004612.2:c.1199A=	NP_004603.1:p.Asp400=
NM_004612.3:c.1199A=	NP_004603.1:p.Asp400=
ENST00000374990.6:c.968A=	ENSP00000364129.2:p.Asp323=
ENST00000374994.8:c.1199A=	ENSP00000364133.4:p.Asp400=
ENST00000547314.6:c.992A=	ENSP00000449934.2:p.Asp331=
ENST00000548365.6:c.*121A=	ENSP00000448518.2:n.*121A=
ENST00000549021.6:c.761A=	ENSP00000449028.2:p.Asp254=
ENST00000549766.5:c.1143-1101A=	ENSP00000446685.1:n.1143-1101A=
ENST00000550253.1:c.992A=	ENSP00000450052.1:p.Asp331=
ENST00000552516.5:c.1211A=	ENSP00000447297.1:p.Asp404=
ENST00000552573.7:c.1004A=	ENSP00000447182.3:p.Asp335=
ENST00000698941.1:c.1004A=	ENSP00000514048.1:p.Asp335=
ENST00000698942.1:c.*995A=	ENSP00000514049.1:n.*995A=
XM_011518948.1:c.1004A=	XP_011517250.1:p.Asp335=
XM_011518948.2:c.1004A=	XP_011517250.1:p.Asp335=
XM_011518949.1:c.992A=	XP_011517251.1:p.Asp331=
XM_011518949.2:c.992A=	XP_011517251.1:p.Asp331=
XM_011518950.1:c.761A=	XP_011517252.1:p.Asp254=
XM_011518950.2:c.761A=	XP_011517252.1:p.Asp254=
XM_017015063.1:c.1004A=	XP_016870552.1:p.Asp335=
XM_024447658.1:c.992A=	XP_024303426.1:p.Asp331=