Canonical Allele Identifier: CA044892

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 477566
• ClinVar RCV Id: RCV000539367 ; RCV003999475
• dbSNP Id: rs779055286
• ExAC: 9:101891138 G / A
• gnomAD v2: 9-101891138-G-A
• gnomAD v3: 9-99128856-G-A
• gnomAD v4: 9-99128856-G-A
• COSMIC: COSM1103187
• MyVariant Identifiers: chr9:g.101891138G>A (hg19) ; chr9:g.99128856G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99128856G>A , CM000671.2:g.99128856G>A	GRCh38
NC_000009.11:g.101891138G>A , CM000671.1:g.101891138G>A	GRCh37
NC_000009.10:g.100930959G>A	NCBI36
NG_007461.1:g.28727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.-109G>A	ENSP00000449934.2:n.-109G>A
ENST00000552573.7:c.-109G>A	ENSP00000447182.3:n.-109G>A
ENST00000548365.6:c.-109G>A	ENSP00000448518.2:n.-109G>A
ENST00000549021.6:c.-109G>A	ENSP00000449028.2:n.-109G>A
ENST00000698941.1:c.-109G>A	ENSP00000514048.1:n.-109G>A
ENST00000374994.9:c.99G>A MANE Select	ENSP00000364133.4:p.Ala33=
ENST00000374990.6:c.99G>A	ENSP00000364129.2:p.Ala33=
ENST00000374994.8:c.99G>A	ENSP00000364133.4:p.Ala33=
ENST00000546584.1:c.-109G>A	ENSP00000447707.2:n.-109G>A
ENST00000547314.5:c.-109G>A	ENSP00000449934.1:n.-109G>A
ENST00000548365.5:c.-109G>A	ENSP00000448518.1:n.-109G>A
ENST00000549021.5:c.-109G>A	ENSP00000449028.1:n.-109G>A
ENST00000549766.5:c.99G>A	ENSP00000446685.1:p.Ala33=
ENST00000550253.1:c.-109G>A	ENSP00000450052.1:n.-109G>A
ENST00000552516.5:c.99G>A	ENSP00000447297.1:p.Ala33=
ENST00000552573.6:c.-109G>A	ENSP00000447182.2:n.-109G>A
NM_001130916.1:c.99G>A	NP_001124388.1:p.Ala33=
NM_001130916.2:c.99G>A	NP_001124388.1:p.Ala33=
NM_001306210.1:c.99G>A	NP_001293139.1:p.Ala33=
NM_004612.2:c.99G>A	NP_004603.1:p.Ala33=
NM_004612.3:c.99G>A	NP_004603.1:p.Ala33=
XM_011518948.1:c.-109G>A	XP_011517250.1:n.-109G>A
XM_011518949.1:c.-109G>A	XP_011517251.1:n.-109G>A
XM_011518950.1:c.-109G>A	XP_011517252.1:n.-109G>A
XM_011518948.2:c.-109G>A	XP_011517250.1:n.-109G>A
XM_011518949.2:c.-109G>A	XP_011517251.1:n.-109G>A
XM_011518950.2:c.-109G>A	XP_011517252.1:n.-109G>A
XM_017015063.1:c.-109G>A	XP_016870552.1:n.-109G>A
XM_024447658.1:c.-109G>A	XP_024303426.1:n.-109G>A
NM_004612.4:c.99G>A MANE Select	NP_004603.1:p.Ala33=
NM_001130916.3:c.99G>A	NP_001124388.1:p.Ala33=
NM_001306210.2:c.99G>A	NP_001293139.1:p.Ala33=