Canonical Allele Identifier: CA042027

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 213866
• ClinVar RCV Id: RCV000762567 ; RCV002321793
• dbSNP Id: rs745576967
• ExAC: 9:101894856 G / A
• gnomAD v2: 9-101894856-G-A
• gnomAD v3: 9-99132574-G-A
• gnomAD v4: 9-99132574-G-A
• COSMIC: COSM5003147
• MyVariant Identifiers: chr9:g.101894856G>A (hg19) ; chr9:g.99132574G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99132574G>A , CM000671.2:g.99132574G>A	GRCh38
NC_000009.11:g.101894856G>A , CM000671.1:g.101894856G>A	GRCh37
NC_000009.10:g.100934677G>A	NCBI36
NG_007461.1:g.32445G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.202G>A	ENSP00000449934.2:p.Val68Ile
ENST00000552573.7:c.214G>A	ENSP00000447182.3:p.Val72Ile
ENST00000548365.6:c.214G>A	ENSP00000448518.2:p.Val72Ile
ENST00000549021.6:c.136+3474G>A	ENSP00000449028.2:n.136+3474G>A
ENST00000698941.1:c.214G>A	ENSP00000514048.1:p.Val72Ile
ENST00000698942.1:c.*205G>A	ENSP00000514049.1:n.*205G>A
ENST00000374994.9:c.409G>A MANE Select	ENSP00000364133.4:p.Val137Ile
ENST00000374990.6:c.343+3474G>A	ENSP00000364129.2:n.343+3474G>A
ENST00000374994.8:c.409G>A	ENSP00000364133.4:p.Val137Ile
ENST00000546584.1:c.202G>A	ENSP00000447707.2:p.Val68Ile
ENST00000547314.5:c.202G>A	ENSP00000449934.1:p.Val68Ile
ENST00000548365.5:c.214G>A	ENSP00000448518.1:p.Val72Ile
ENST00000549021.5:c.136+3474G>A	ENSP00000449028.1:n.136+3474G>A
ENST00000549766.5:c.421G>A	ENSP00000446685.1:p.Val141Ile
ENST00000550253.1:c.202G>A	ENSP00000450052.1:p.Val68Ile
ENST00000552516.5:c.421G>A	ENSP00000447297.1:p.Val141Ile
ENST00000552573.6:c.214G>A	ENSP00000447182.2:p.Val72Ile
NM_001130916.1:c.343+3474G>A	NP_001124388.1:n.343+3474G>A
NM_001130916.2:c.343+3474G>A	NP_001124388.1:n.343+3474G>A
NM_001306210.1:c.421G>A	NP_001293139.1:p.Val141Ile
NM_004612.2:c.409G>A	NP_004603.1:p.Val137Ile
NM_004612.3:c.409G>A	NP_004603.1:p.Val137Ile
XM_011518948.1:c.214G>A	XP_011517250.1:p.Val72Ile
XM_011518949.1:c.202G>A	XP_011517251.1:p.Val68Ile
XM_011518950.1:c.136+3474G>A	XP_011517252.1:n.136+3474G>A
XM_011518948.2:c.214G>A	XP_011517250.1:p.Val72Ile
XM_011518949.2:c.202G>A	XP_011517251.1:p.Val68Ile
XM_011518950.2:c.136+3474G>A	XP_011517252.1:n.136+3474G>A
XM_017015063.1:c.214G>A	XP_016870552.1:p.Val72Ile
XM_024447658.1:c.202G>A	XP_024303426.1:p.Val68Ile
NM_004612.4:c.409G>A MANE Select	NP_004603.1:p.Val137Ile
NM_001130916.3:c.343+3474G>A	NP_001124388.1:n.343+3474G>A
NM_001306210.2:c.421G>A	NP_001293139.1:p.Val141Ile