Canonical Allele Identifier: CA466434433

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 2820371
• ClinVar RCV Id: RCV003643818
• gnomAD v4: 9-99142582-G-A
• MyVariant Identifiers: chr9:g.101904864G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142582G>A , CM000671.2:g.99142582G>A	GRCh38
NC_000009.11:g.101904864G>A , CM000671.1:g.101904864G>A	GRCh37
NC_000009.10:g.100944685G>A	NCBI36
NG_007461.1:g.42453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.645G>A	ENSP00000449934.2:p.Glu215=
ENST00000552573.7:c.657G>A	ENSP00000447182.3:p.Glu219=
ENST00000548365.6:c.426G>A	ENSP00000448518.2:p.Glu142=
ENST00000549021.6:c.414G>A	ENSP00000449028.2:p.Glu138=
ENST00000698941.1:c.657G>A	ENSP00000514048.1:p.Glu219=
ENST00000698942.1:c.*648G>A	ENSP00000514049.1:n.*648G>A
ENST00000374994.9:c.852G>A MANE Select	ENSP00000364133.4:p.Glu284=
ENST00000374990.6:c.621G>A	ENSP00000364129.2:p.Glu207=
ENST00000374994.8:c.852G>A	ENSP00000364133.4:p.Glu284=
ENST00000549766.5:c.864G>A	ENSP00000446685.1:p.Glu288=
ENST00000550253.1:c.645G>A	ENSP00000450052.1:p.Glu215=
ENST00000552516.5:c.864G>A	ENSP00000447297.1:p.Glu288=
NM_001130916.1:c.621G>A	NP_001124388.1:p.Glu207=
NM_001130916.2:c.621G>A	NP_001124388.1:p.Glu207=
NM_001306210.1:c.864G>A	NP_001293139.1:p.Glu288=
NM_004612.2:c.852G>A	NP_004603.1:p.Glu284=
NM_004612.3:c.852G>A	NP_004603.1:p.Glu284=
XM_011518948.1:c.657G>A	XP_011517250.1:p.Glu219=
XM_011518949.1:c.645G>A	XP_011517251.1:p.Glu215=
XM_011518950.1:c.414G>A	XP_011517252.1:p.Glu138=
XM_011518948.2:c.657G>A	XP_011517250.1:p.Glu219=
XM_011518949.2:c.645G>A	XP_011517251.1:p.Glu215=
XM_011518950.2:c.414G>A	XP_011517252.1:p.Glu138=
XM_017015063.1:c.657G>A	XP_016870552.1:p.Glu219=
XM_024447658.1:c.645G>A	XP_024303426.1:p.Glu215=
NM_004612.4:c.852G>A MANE Select	NP_004603.1:p.Glu284=
NM_001130916.3:c.621G>A	NP_001124388.1:p.Glu207=
NM_001306210.2:c.864G>A	NP_001293139.1:p.Glu288=