Canonical Allele Identifier: CA374229410

Gene: TGFBR1

Linked Data

• dbSNP Id: rs2118709322
• MyVariant Identifiers: chr9:g.101900173A>T (hg19) ; chr9:g.99137891A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137891A>T , CM000671.2:g.99137891A>T	GRCh38
NC_000009.11:g.101900173A>T , CM000671.1:g.101900173A>T	GRCh37
NC_000009.10:g.100939994A>T	NCBI36
NG_007461.1:g.37762A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.400A>T	ENSP00000449934.2:p.Arg134Ter
ENST00000552573.7:c.412A>T	ENSP00000447182.3:p.Arg138Ter
ENST00000548365.6:c.380-4645A>T	ENSP00000448518.2:n.380-4645A>T
ENST00000549021.6:c.169A>T	ENSP00000449028.2:p.Arg57Ter
ENST00000698941.1:c.412A>T	ENSP00000514048.1:p.Arg138Ter
ENST00000698942.1:c.*403A>T	ENSP00000514049.1:n.*403A>T
ENST00000374994.9:c.607A>T MANE Select	ENSP00000364133.4:p.Arg203Ter
ENST00000374990.6:c.376A>T	ENSP00000364129.2:p.Arg126Ter
ENST00000374994.8:c.607A>T	ENSP00000364133.4:p.Arg203Ter
ENST00000549021.5:c.169A>T	ENSP00000449028.1:p.Arg57Ter
ENST00000549766.5:c.619A>T	ENSP00000446685.1:p.Arg207Ter
ENST00000550253.1:c.400A>T	ENSP00000450052.1:p.Arg134Ter
ENST00000552516.5:c.619A>T	ENSP00000447297.1:p.Arg207Ter
NM_001130916.1:c.376A>T	NP_001124388.1:p.Arg126Ter
NM_001130916.2:c.376A>T	NP_001124388.1:p.Arg126Ter
NM_001306210.1:c.619A>T	NP_001293139.1:p.Arg207Ter
NM_004612.2:c.607A>T	NP_004603.1:p.Arg203Ter
NM_004612.3:c.607A>T	NP_004603.1:p.Arg203Ter
XM_011518948.1:c.412A>T	XP_011517250.1:p.Arg138Ter
XM_011518949.1:c.400A>T	XP_011517251.1:p.Arg134Ter
XM_011518950.1:c.169A>T	XP_011517252.1:p.Arg57Ter
XM_011518948.2:c.412A>T	XP_011517250.1:p.Arg138Ter
XM_011518949.2:c.400A>T	XP_011517251.1:p.Arg134Ter
XM_011518950.2:c.169A>T	XP_011517252.1:p.Arg57Ter
XM_017015063.1:c.412A>T	XP_016870552.1:p.Arg138Ter
XM_024447658.1:c.400A>T	XP_024303426.1:p.Arg134Ter
NM_004612.4:c.607A>T MANE Select	NP_004603.1:p.Arg203Ter
NM_001130916.3:c.376A>T	NP_001124388.1:p.Arg126Ter
NM_001306210.2:c.619A>T	NP_001293139.1:p.Arg207Ter