Canonical Allele Identifier: CA374230813

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 1698260
• ClinVar RCV Id: RCV002269683 ; RCV002496209
• dbSNP Id: rs2118780957
• gnomAD v4: 9-99142687-G-T
• MyVariant Identifiers: chr9:g.101904969G>T (hg19) ; chr9:g.99142687G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142687G>T , CM000671.2:g.99142687G>T	GRCh38
NC_000009.11:g.101904969G>T , CM000671.1:g.101904969G>T	GRCh37
NC_000009.10:g.100944790G>T	NCBI36
NG_007461.1:g.42558G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.750G>T	ENSP00000449934.2:p.Glu250Asp
ENST00000552573.7:c.762G>T	ENSP00000447182.3:p.Glu254Asp
ENST00000548365.6:c.531G>T	ENSP00000448518.2:p.Glu177Asp
ENST00000549021.6:c.519G>T	ENSP00000449028.2:p.Glu173Asp
ENST00000698941.1:c.762G>T	ENSP00000514048.1:p.Glu254Asp
ENST00000698942.1:c.*753G>T	ENSP00000514049.1:n.*753G>T
ENST00000374994.9:c.957G>T MANE Select	ENSP00000364133.4:p.Glu319Asp
ENST00000374990.6:c.726G>T	ENSP00000364129.2:p.Glu242Asp
ENST00000374994.8:c.957G>T	ENSP00000364133.4:p.Glu319Asp
ENST00000549766.5:c.969G>T	ENSP00000446685.1:p.Glu323Asp
ENST00000550253.1:c.750G>T	ENSP00000450052.1:p.Glu250Asp
ENST00000552516.5:c.969G>T	ENSP00000447297.1:p.Glu323Asp
NM_001130916.1:c.726G>T	NP_001124388.1:p.Glu242Asp
NM_001130916.2:c.726G>T	NP_001124388.1:p.Glu242Asp
NM_001306210.1:c.969G>T	NP_001293139.1:p.Glu323Asp
NM_004612.2:c.957G>T	NP_004603.1:p.Glu319Asp
NM_004612.3:c.957G>T	NP_004603.1:p.Glu319Asp
XM_011518948.1:c.762G>T	XP_011517250.1:p.Glu254Asp
XM_011518949.1:c.750G>T	XP_011517251.1:p.Glu250Asp
XM_011518950.1:c.519G>T	XP_011517252.1:p.Glu173Asp
XM_011518948.2:c.762G>T	XP_011517250.1:p.Glu254Asp
XM_011518949.2:c.750G>T	XP_011517251.1:p.Glu250Asp
XM_011518950.2:c.519G>T	XP_011517252.1:p.Glu173Asp
XM_017015063.1:c.762G>T	XP_016870552.1:p.Glu254Asp
XM_024447658.1:c.750G>T	XP_024303426.1:p.Glu250Asp
NM_004612.4:c.957G>T MANE Select	NP_004603.1:p.Glu319Asp
NM_001130916.3:c.726G>T	NP_001124388.1:p.Glu242Asp
NM_001306210.2:c.969G>T	NP_001293139.1:p.Glu323Asp