Canonical Allele Identifier: CA374223772

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 444775
• ClinVar RCV Id: RCV000513181 ; RCV004023474
• dbSNP Id: rs1554695407
• gnomAD v4: 9-99105267-C-T
• MyVariant Identifiers: chr9:g.101867549C>T (hg19) ; chr9:g.99105267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99105267C>T , CM000671.2:g.99105267C>T	GRCh38
NC_000009.11:g.101867549C>T , CM000671.1:g.101867549C>T	GRCh37
NC_000009.10:g.100907370C>T	NCBI36
NG_007461.1:g.5138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.-111+1161C>T	ENSP00000449934.2:n.-111+1161C>T
ENST00000552573.7:c.-111+1161C>T	ENSP00000447182.3:n.-111+1161C>T
ENST00000698941.1:c.-111+142C>T	ENSP00000514048.1:n.-111+142C>T
ENST00000374994.9:c.62C>T MANE Select	ENSP00000364133.4:p.Ala21Val
ENST00000374990.6:c.62C>T	ENSP00000364129.2:p.Ala21Val
ENST00000374994.8:c.62C>T	ENSP00000364133.4:p.Ala21Val
ENST00000547314.5:c.-111+1161C>T	ENSP00000449934.1:n.-111+1161C>T
ENST00000549766.5:c.62C>T	ENSP00000446685.1:p.Ala21Val
ENST00000552516.5:c.62C>T	ENSP00000447297.1:p.Ala21Val
ENST00000552573.6:c.-111+1161C>T	ENSP00000447182.2:n.-111+1161C>T
NM_001130916.1:c.62C>T	NP_001124388.1:p.Ala21Val
NM_001130916.2:c.62C>T	NP_001124388.1:p.Ala21Val
NM_001306210.1:c.62C>T	NP_001293139.1:p.Ala21Val
NM_004612.2:c.62C>T	NP_004603.1:p.Ala21Val
NM_004612.3:c.62C>T	NP_004603.1:p.Ala21Val
XM_011518949.1:c.-111+1161C>T	XP_011517251.1:n.-111+1161C>T
XM_011518949.2:c.-111+1161C>T	XP_011517251.1:n.-111+1161C>T
XM_017015063.1:c.-111+142C>T	XP_016870552.1:n.-111+142C>T
NM_004612.4:c.62C>T MANE Select	NP_004603.1:p.Ala21Val
NM_001130916.3:c.62C>T	NP_001124388.1:p.Ala21Val
NM_001306210.2:c.62C>T	NP_001293139.1:p.Ala21Val