Canonical Allele Identifier: CA374230578

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142578A>G , CM000671.2:g.99142578A>G	GRCh38
NC_000009.11:g.101904860A>G , CM000671.1:g.101904860A>G	GRCh37
NC_000009.10:g.100944681A>G	NCBI36
NG_007461.1:g.42449A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.641A>G	ENSP00000449934.2:p.His214Arg
ENST00000552573.7:c.653A>G	ENSP00000447182.3:p.His218Arg
ENST00000548365.6:c.422A>G	ENSP00000448518.2:p.His141Arg
ENST00000549021.6:c.410A>G	ENSP00000449028.2:p.His137Arg
ENST00000698941.1:c.653A>G	ENSP00000514048.1:p.His218Arg
ENST00000698942.1:c.*644A>G	ENSP00000514049.1:n.*644A>G
ENST00000374994.9:c.848A>G MANE Select	ENSP00000364133.4:p.His283Arg
ENST00000374990.6:c.617A>G	ENSP00000364129.2:p.His206Arg
ENST00000374994.8:c.848A>G	ENSP00000364133.4:p.His283Arg
ENST00000549766.5:c.860A>G	ENSP00000446685.1:p.His287Arg
ENST00000550253.1:c.641A>G	ENSP00000450052.1:p.His214Arg
ENST00000552516.5:c.860A>G	ENSP00000447297.1:p.His287Arg
NM_001130916.1:c.617A>G	NP_001124388.1:p.His206Arg
NM_001130916.2:c.617A>G	NP_001124388.1:p.His206Arg
NM_001306210.1:c.860A>G	NP_001293139.1:p.His287Arg
NM_004612.2:c.848A>G	NP_004603.1:p.His283Arg
NM_004612.3:c.848A>G	NP_004603.1:p.His283Arg
XM_011518948.1:c.653A>G	XP_011517250.1:p.His218Arg
XM_011518949.1:c.641A>G	XP_011517251.1:p.His214Arg
XM_011518950.1:c.410A>G	XP_011517252.1:p.His137Arg
XM_011518948.2:c.653A>G	XP_011517250.1:p.His218Arg
XM_011518949.2:c.641A>G	XP_011517251.1:p.His214Arg
XM_011518950.2:c.410A>G	XP_011517252.1:p.His137Arg
XM_017015063.1:c.653A>G	XP_016870552.1:p.His218Arg
XM_024447658.1:c.641A>G	XP_024303426.1:p.His214Arg
NM_004612.4:c.848A>G MANE Select	NP_004603.1:p.His283Arg
NM_001130916.3:c.617A>G	NP_001124388.1:p.His206Arg
NM_001306210.2:c.860A>G	NP_001293139.1:p.His287Arg