Canonical Allele Identifier: CA321351

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99105225C>T , CM000671.2:g.99105225C>T	GRCh38
NC_000009.11:g.101867507C>T , CM000671.1:g.101867507C>T	GRCh37
NC_000009.10:g.100907328C>T	NCBI36
NG_007461.1:g.5096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.-111+1119C>T	ENSP00000449934.2:n.-111+1119C>T
ENST00000552573.7:c.-111+1119C>T	ENSP00000447182.3:n.-111+1119C>T
ENST00000698941.1:c.-111+100C>T	ENSP00000514048.1:n.-111+100C>T
ENST00000374994.9:c.20C>T MANE Select	ENSP00000364133.4:p.Ala7Val
ENST00000374990.6:c.20C>T	ENSP00000364129.2:p.Ala7Val
ENST00000374994.8:c.20C>T	ENSP00000364133.4:p.Ala7Val
ENST00000547314.5:c.-111+1119C>T	ENSP00000449934.1:n.-111+1119C>T
ENST00000549766.5:c.20C>T	ENSP00000446685.1:p.Ala7Val
ENST00000552516.5:c.20C>T	ENSP00000447297.1:p.Ala7Val
ENST00000552573.6:c.-111+1119C>T	ENSP00000447182.2:n.-111+1119C>T
NM_001130916.1:c.20C>T	NP_001124388.1:p.Ala7Val
NM_001130916.2:c.20C>T	NP_001124388.1:p.Ala7Val
NM_001306210.1:c.20C>T	NP_001293139.1:p.Ala7Val
NM_004612.2:c.20C>T	NP_004603.1:p.Ala7Val
NM_004612.3:c.20C>T	NP_004603.1:p.Ala7Val
XM_011518949.1:c.-111+1119C>T	XP_011517251.1:n.-111+1119C>T
XM_011518949.2:c.-111+1119C>T	XP_011517251.1:n.-111+1119C>T
XM_017015063.1:c.-111+100C>T	XP_016870552.1:n.-111+100C>T
NM_004612.4:c.20C>T MANE Select	NP_004603.1:p.Ala7Val
NM_001130916.3:c.20C>T	NP_001124388.1:p.Ala7Val
NM_001306210.2:c.20C>T	NP_001293139.1:p.Ala7Val