Canonical Allele Identifier: CA322797

Gene: TGFBR1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.448G>T	ENSP00000449934.2:p.Val150Phe
ENST00000552573.7:c.460G>T	ENSP00000447182.3:p.Val154Phe
ENST00000548365.6:c.380-4597G>T	ENSP00000448518.2:n.380-4597G>T
ENST00000549021.6:c.217G>T	ENSP00000449028.2:p.Val73Phe
ENST00000698941.1:c.460G>T	ENSP00000514048.1:p.Val154Phe
ENST00000698942.1:c.*451G>T	ENSP00000514049.1:n.*451G>T
ENST00000374994.9:c.655G>T MANE Select	ENSP00000364133.4:p.Val219Phe
ENST00000374990.6:c.424G>T	ENSP00000364129.2:p.Val142Phe
ENST00000374994.8:c.655G>T	ENSP00000364133.4:p.Val219Phe
ENST00000549021.5:c.217G>T	ENSP00000449028.1:p.Val73Phe
ENST00000549766.5:c.667G>T	ENSP00000446685.1:p.Val223Phe
ENST00000550253.1:c.448G>T	ENSP00000450052.1:p.Val150Phe
ENST00000552516.5:c.667G>T	ENSP00000447297.1:p.Val223Phe
NM_001130916.1:c.424G>T	NP_001124388.1:p.Val142Phe
NM_001130916.2:c.424G>T	NP_001124388.1:p.Val142Phe
NM_001306210.1:c.667G>T	NP_001293139.1:p.Val223Phe
NM_004612.2:c.655G>T	NP_004603.1:p.Val219Phe
NM_004612.3:c.655G>T	NP_004603.1:p.Val219Phe
XM_011518948.1:c.460G>T	XP_011517250.1:p.Val154Phe
XM_011518949.1:c.448G>T	XP_011517251.1:p.Val150Phe
XM_011518950.1:c.217G>T	XP_011517252.1:p.Val73Phe
XM_011518948.2:c.460G>T	XP_011517250.1:p.Val154Phe
XM_011518949.2:c.448G>T	XP_011517251.1:p.Val150Phe
XM_011518950.2:c.217G>T	XP_011517252.1:p.Val73Phe
XM_017015063.1:c.460G>T	XP_016870552.1:p.Val154Phe
XM_024447658.1:c.448G>T	XP_024303426.1:p.Val150Phe
NM_004612.4:c.655G>T MANE Select	NP_004603.1:p.Val219Phe
NM_001130916.3:c.424G>T	NP_001124388.1:p.Val142Phe
NM_001306210.2:c.667G>T	NP_001293139.1:p.Val223Phe