Canonical Allele Identifier: CA044286

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 629770
• ClinVar RCV Id: RCV000774482 ; RCV001579350
• dbSNP Id: rs762486367
• ExAC: 9:101908841 A / G
• gnomAD v2: 9-101908841-A-G
• gnomAD v3: 9-99146559-A-G
• gnomAD v4: 9-99146559-A-G
• MyVariant Identifiers: chr9:g.101908841A>G (hg19) ; chr9:g.99146559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99146559A>G , CM000671.2:g.99146559A>G	GRCh38
NC_000009.11:g.101908841A>G , CM000671.1:g.101908841A>G	GRCh37
NC_000009.10:g.100948662A>G	NCBI36
NG_007461.1:g.46430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.998A>G	ENSP00000449934.2:p.Tyr333Cys
ENST00000552573.7:c.1010A>G	ENSP00000447182.3:p.Tyr337Cys
ENST00000548365.6:c.*127A>G	ENSP00000448518.2:n.*127A>G
ENST00000549021.6:c.767A>G	ENSP00000449028.2:p.Tyr256Cys
ENST00000698941.1:c.1010A>G	ENSP00000514048.1:p.Tyr337Cys
ENST00000698942.1:c.*1001A>G	ENSP00000514049.1:n.*1001A>G
ENST00000374994.9:c.1205A>G MANE Select	ENSP00000364133.4:p.Tyr402Cys
ENST00000374990.6:c.974A>G	ENSP00000364129.2:p.Tyr325Cys
ENST00000374994.8:c.1205A>G	ENSP00000364133.4:p.Tyr402Cys
ENST00000549766.5:c.1143-1095A>G	ENSP00000446685.1:n.1143-1095A>G
ENST00000550253.1:c.998A>G	ENSP00000450052.1:p.Tyr333Cys
ENST00000552516.5:c.1217A>G	ENSP00000447297.1:p.Tyr406Cys
NM_001130916.1:c.974A>G	NP_001124388.1:p.Tyr325Cys
NM_001130916.2:c.974A>G	NP_001124388.1:p.Tyr325Cys
NM_001306210.1:c.1217A>G	NP_001293139.1:p.Tyr406Cys
NM_004612.2:c.1205A>G	NP_004603.1:p.Tyr402Cys
NM_004612.3:c.1205A>G	NP_004603.1:p.Tyr402Cys
XM_011518948.1:c.1010A>G	XP_011517250.1:p.Tyr337Cys
XM_011518949.1:c.998A>G	XP_011517251.1:p.Tyr333Cys
XM_011518950.1:c.767A>G	XP_011517252.1:p.Tyr256Cys
XM_011518948.2:c.1010A>G	XP_011517250.1:p.Tyr337Cys
XM_011518949.2:c.998A>G	XP_011517251.1:p.Tyr333Cys
XM_011518950.2:c.767A>G	XP_011517252.1:p.Tyr256Cys
XM_017015063.1:c.1010A>G	XP_016870552.1:p.Tyr337Cys
XM_024447658.1:c.998A>G	XP_024303426.1:p.Tyr333Cys
NM_004612.4:c.1205A>G MANE Select	NP_004603.1:p.Tyr402Cys
NM_001130916.3:c.974A>G	NP_001124388.1:p.Tyr325Cys
NM_001306210.2:c.1217A>G	NP_001293139.1:p.Tyr406Cys