Canonical Allele Identifier: CA374230620

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101904879T>A (hg19) ; chr9:g.99142597T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142597T>A , CM000671.2:g.99142597T>A	GRCh38
NC_000009.11:g.101904879T>A , CM000671.1:g.101904879T>A	GRCh37
NC_000009.10:g.100944700T>A	NCBI36
NG_007461.1:g.42468T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.660T>A	ENSP00000449934.2:p.Phe220Leu
ENST00000552573.7:c.672T>A	ENSP00000447182.3:p.Phe224Leu
ENST00000548365.6:c.441T>A	ENSP00000448518.2:p.Phe147Leu
ENST00000549021.6:c.429T>A	ENSP00000449028.2:p.Phe143Leu
ENST00000698941.1:c.672T>A	ENSP00000514048.1:p.Phe224Leu
ENST00000698942.1:c.*663T>A	ENSP00000514049.1:n.*663T>A
ENST00000374994.9:c.867T>A MANE Select	ENSP00000364133.4:p.Phe289Leu
ENST00000374990.6:c.636T>A	ENSP00000364129.2:p.Phe212Leu
ENST00000374994.8:c.867T>A	ENSP00000364133.4:p.Phe289Leu
ENST00000549766.5:c.879T>A	ENSP00000446685.1:p.Phe293Leu
ENST00000550253.1:c.660T>A	ENSP00000450052.1:p.Phe220Leu
ENST00000552516.5:c.879T>A	ENSP00000447297.1:p.Phe293Leu
NM_001130916.1:c.636T>A	NP_001124388.1:p.Phe212Leu
NM_001130916.2:c.636T>A	NP_001124388.1:p.Phe212Leu
NM_001306210.1:c.879T>A	NP_001293139.1:p.Phe293Leu
NM_004612.2:c.867T>A	NP_004603.1:p.Phe289Leu
NM_004612.3:c.867T>A	NP_004603.1:p.Phe289Leu
XM_011518948.1:c.672T>A	XP_011517250.1:p.Phe224Leu
XM_011518949.1:c.660T>A	XP_011517251.1:p.Phe220Leu
XM_011518950.1:c.429T>A	XP_011517252.1:p.Phe143Leu
XM_011518948.2:c.672T>A	XP_011517250.1:p.Phe224Leu
XM_011518949.2:c.660T>A	XP_011517251.1:p.Phe220Leu
XM_011518950.2:c.429T>A	XP_011517252.1:p.Phe143Leu
XM_017015063.1:c.672T>A	XP_016870552.1:p.Phe224Leu
XM_024447658.1:c.660T>A	XP_024303426.1:p.Phe220Leu
NM_004612.4:c.867T>A MANE Select	NP_004603.1:p.Phe289Leu
NM_001130916.3:c.636T>A	NP_001124388.1:p.Phe212Leu
NM_001306210.2:c.879T>A	NP_001293139.1:p.Phe293Leu