Canonical Allele Identifier: CA374229577

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137939G>A , CM000671.2:g.99137939G>A	GRCh38
NC_000009.11:g.101900221G>A , CM000671.1:g.101900221G>A	GRCh37
NC_000009.10:g.100940042G>A	NCBI36
NG_007461.1:g.37810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.448G>A	ENSP00000449934.2:p.Val150Ile
ENST00000552573.7:c.460G>A	ENSP00000447182.3:p.Val154Ile
ENST00000548365.6:c.380-4597G>A	ENSP00000448518.2:n.380-4597G>A
ENST00000549021.6:c.217G>A	ENSP00000449028.2:p.Val73Ile
ENST00000698941.1:c.460G>A	ENSP00000514048.1:p.Val154Ile
ENST00000698942.1:c.*451G>A	ENSP00000514049.1:n.*451G>A
ENST00000374994.9:c.655G>A MANE Select	ENSP00000364133.4:p.Val219Ile
ENST00000374990.6:c.424G>A	ENSP00000364129.2:p.Val142Ile
ENST00000374994.8:c.655G>A	ENSP00000364133.4:p.Val219Ile
ENST00000549021.5:c.217G>A	ENSP00000449028.1:p.Val73Ile
ENST00000549766.5:c.667G>A	ENSP00000446685.1:p.Val223Ile
ENST00000550253.1:c.448G>A	ENSP00000450052.1:p.Val150Ile
ENST00000552516.5:c.667G>A	ENSP00000447297.1:p.Val223Ile
NM_001130916.1:c.424G>A	NP_001124388.1:p.Val142Ile
NM_001130916.2:c.424G>A	NP_001124388.1:p.Val142Ile
NM_001306210.1:c.667G>A	NP_001293139.1:p.Val223Ile
NM_004612.2:c.655G>A	NP_004603.1:p.Val219Ile
NM_004612.3:c.655G>A	NP_004603.1:p.Val219Ile
XM_011518948.1:c.460G>A	XP_011517250.1:p.Val154Ile
XM_011518949.1:c.448G>A	XP_011517251.1:p.Val150Ile
XM_011518950.1:c.217G>A	XP_011517252.1:p.Val73Ile
XM_011518948.2:c.460G>A	XP_011517250.1:p.Val154Ile
XM_011518949.2:c.448G>A	XP_011517251.1:p.Val150Ile
XM_011518950.2:c.217G>A	XP_011517252.1:p.Val73Ile
XM_017015063.1:c.460G>A	XP_016870552.1:p.Val154Ile
XM_024447658.1:c.448G>A	XP_024303426.1:p.Val150Ile
NM_004612.4:c.655G>A MANE Select	NP_004603.1:p.Val219Ile
NM_001130916.3:c.424G>A	NP_001124388.1:p.Val142Ile
NM_001306210.2:c.667G>A	NP_001293139.1:p.Val223Ile