Canonical Allele Identifier: CA319926

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 213900
• ClinVar RCV Id: RCV003528155
• dbSNP Id: rs863223832
• COSMIC: COSM3902538
• MyVariant Identifiers: chr9:g.101904872C>T (hg19) ; chr9:g.99142590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142590C>T , CM000671.2:g.99142590C>T	GRCh38
NC_000009.11:g.101904872C>T , CM000671.1:g.101904872C>T	GRCh37
NC_000009.10:g.100944693C>T	NCBI36
NG_007461.1:g.42461C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.653C>T	ENSP00000449934.2:p.Ser218Phe
ENST00000552573.7:c.665C>T	ENSP00000447182.3:p.Ser222Phe
ENST00000548365.6:c.434C>T	ENSP00000448518.2:p.Ser145Phe
ENST00000549021.6:c.422C>T	ENSP00000449028.2:p.Ser141Phe
ENST00000698941.1:c.665C>T	ENSP00000514048.1:p.Ser222Phe
ENST00000698942.1:c.*656C>T	ENSP00000514049.1:n.*656C>T
ENST00000374994.9:c.860C>T MANE Select	ENSP00000364133.4:p.Ser287Phe
ENST00000374990.6:c.629C>T	ENSP00000364129.2:p.Ser210Phe
ENST00000374994.8:c.860C>T	ENSP00000364133.4:p.Ser287Phe
ENST00000549766.5:c.872C>T	ENSP00000446685.1:p.Ser291Phe
ENST00000550253.1:c.653C>T	ENSP00000450052.1:p.Ser218Phe
ENST00000552516.5:c.872C>T	ENSP00000447297.1:p.Ser291Phe
NM_001130916.1:c.629C>T	NP_001124388.1:p.Ser210Phe
NM_001130916.2:c.629C>T	NP_001124388.1:p.Ser210Phe
NM_001306210.1:c.872C>T	NP_001293139.1:p.Ser291Phe
NM_004612.2:c.860C>T	NP_004603.1:p.Ser287Phe
NM_004612.3:c.860C>T	NP_004603.1:p.Ser287Phe
XM_011518948.1:c.665C>T	XP_011517250.1:p.Ser222Phe
XM_011518949.1:c.653C>T	XP_011517251.1:p.Ser218Phe
XM_011518950.1:c.422C>T	XP_011517252.1:p.Ser141Phe
XM_011518948.2:c.665C>T	XP_011517250.1:p.Ser222Phe
XM_011518949.2:c.653C>T	XP_011517251.1:p.Ser218Phe
XM_011518950.2:c.422C>T	XP_011517252.1:p.Ser141Phe
XM_017015063.1:c.665C>T	XP_016870552.1:p.Ser222Phe
XM_024447658.1:c.653C>T	XP_024303426.1:p.Ser218Phe
NM_004612.4:c.860C>T MANE Select	NP_004603.1:p.Ser287Phe
NM_001130916.3:c.629C>T	NP_001124388.1:p.Ser210Phe
NM_001306210.2:c.872C>T	NP_001293139.1:p.Ser291Phe