Canonical Allele Identifier: CA374230616

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101904877T>G (hg19) ; chr9:g.99142595T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142595T>G , CM000671.2:g.99142595T>G	GRCh38
NC_000009.11:g.101904877T>G , CM000671.1:g.101904877T>G	GRCh37
NC_000009.10:g.100944698T>G	NCBI36
NG_007461.1:g.42466T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.658T>G	ENSP00000449934.2:p.Phe220Val
ENST00000552573.7:c.670T>G	ENSP00000447182.3:p.Phe224Val
ENST00000548365.6:c.439T>G	ENSP00000448518.2:p.Phe147Val
ENST00000549021.6:c.427T>G	ENSP00000449028.2:p.Phe143Val
ENST00000698941.1:c.670T>G	ENSP00000514048.1:p.Phe224Val
ENST00000698942.1:c.*661T>G	ENSP00000514049.1:n.*661T>G
ENST00000374994.9:c.865T>G MANE Select	ENSP00000364133.4:p.Phe289Val
ENST00000374990.6:c.634T>G	ENSP00000364129.2:p.Phe212Val
ENST00000374994.8:c.865T>G	ENSP00000364133.4:p.Phe289Val
ENST00000549766.5:c.877T>G	ENSP00000446685.1:p.Phe293Val
ENST00000550253.1:c.658T>G	ENSP00000450052.1:p.Phe220Val
ENST00000552516.5:c.877T>G	ENSP00000447297.1:p.Phe293Val
NM_001130916.1:c.634T>G	NP_001124388.1:p.Phe212Val
NM_001130916.2:c.634T>G	NP_001124388.1:p.Phe212Val
NM_001306210.1:c.877T>G	NP_001293139.1:p.Phe293Val
NM_004612.2:c.865T>G	NP_004603.1:p.Phe289Val
NM_004612.3:c.865T>G	NP_004603.1:p.Phe289Val
XM_011518948.1:c.670T>G	XP_011517250.1:p.Phe224Val
XM_011518949.1:c.658T>G	XP_011517251.1:p.Phe220Val
XM_011518950.1:c.427T>G	XP_011517252.1:p.Phe143Val
XM_011518948.2:c.670T>G	XP_011517250.1:p.Phe224Val
XM_011518949.2:c.658T>G	XP_011517251.1:p.Phe220Val
XM_011518950.2:c.427T>G	XP_011517252.1:p.Phe143Val
XM_017015063.1:c.670T>G	XP_016870552.1:p.Phe224Val
XM_024447658.1:c.658T>G	XP_024303426.1:p.Phe220Val
NM_004612.4:c.865T>G MANE Select	NP_004603.1:p.Phe289Val
NM_001130916.3:c.634T>G	NP_001124388.1:p.Phe212Val
NM_001306210.2:c.877T>G	NP_001293139.1:p.Phe293Val