Canonical Allele Identifier: CA008738

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 29918
• ClinVar RCV Id: RCV000022805 ; RCV000474057
• dbSNP Id: rs387906697
• gnomAD v4: 9-99146594-C-T
• MyVariant Identifiers: chr9:g.101908876C>T (hg19) ; chr9:g.99146594C>T (hg38)
• PubMed: PMID:21358634

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146594C>T , CM000671.2:g.99146594C>T	GRCh38
NC_000009.11:g.101908876C>T , CM000671.1:g.101908876C>T	GRCh37
NC_000009.10:g.100948697C>T	NCBI36
NG_007461.1:g.46465C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.1033C>T	ENSP00000449934.2:p.Arg345Ter
ENST00000552573.7:c.1045C>T	ENSP00000447182.3:p.Arg349Ter
ENST00000548365.6:c.*162C>T	ENSP00000448518.2:n.*162C>T
ENST00000549021.6:c.802C>T	ENSP00000449028.2:p.Arg268Ter
ENST00000698941.1:c.1045C>T	ENSP00000514048.1:p.Arg349Ter
ENST00000698942.1:c.*1036C>T	ENSP00000514049.1:n.*1036C>T
ENST00000374994.9:c.1240C>T MANE Select	ENSP00000364133.4:p.Arg414Ter
ENST00000374990.6:c.1009C>T	ENSP00000364129.2:p.Arg337Ter
ENST00000374994.8:c.1240C>T	ENSP00000364133.4:p.Arg414Ter
ENST00000549766.5:c.1143-1060C>T	ENSP00000446685.1:n.1143-1060C>T
ENST00000550253.1:c.1033C>T	ENSP00000450052.1:p.Arg345Ter
ENST00000552516.5:c.1252C>T	ENSP00000447297.1:p.Arg418Ter
NM_001130916.1:c.1009C>T	NP_001124388.1:p.Arg337Ter
NM_001130916.2:c.1009C>T	NP_001124388.1:p.Arg337Ter
NM_001306210.1:c.1252C>T	NP_001293139.1:p.Arg418Ter
NM_004612.2:c.1240C>T	NP_004603.1:p.Arg414Ter
NM_004612.3:c.1240C>T	NP_004603.1:p.Arg414Ter
XM_011518948.1:c.1045C>T	XP_011517250.1:p.Arg349Ter
XM_011518949.1:c.1033C>T	XP_011517251.1:p.Arg345Ter
XM_011518950.1:c.802C>T	XP_011517252.1:p.Arg268Ter
XM_011518948.2:c.1045C>T	XP_011517250.1:p.Arg349Ter
XM_011518949.2:c.1033C>T	XP_011517251.1:p.Arg345Ter
XM_011518950.2:c.802C>T	XP_011517252.1:p.Arg268Ter
XM_017015063.1:c.1045C>T	XP_016870552.1:p.Arg349Ter
XM_024447658.1:c.1033C>T	XP_024303426.1:p.Arg345Ter
NM_004612.4:c.1240C>T MANE Select	NP_004603.1:p.Arg414Ter
NM_001130916.3:c.1009C>T	NP_001124388.1:p.Arg337Ter
NM_001306210.2:c.1252C>T	NP_001293139.1:p.Arg418Ter