Canonical Allele Identifier: CA374230774

Gene: TGFBR1

Linked Data

• COSMIC: COSM5711067
• MyVariant Identifiers: chr9:g.101904952G>A (hg19) ; chr9:g.99142670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142670G>A , CM000671.2:g.99142670G>A	GRCh38
NC_000009.11:g.101904952G>A , CM000671.1:g.101904952G>A	GRCh37
NC_000009.10:g.100944773G>A	NCBI36
NG_007461.1:g.42541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.733G>A	ENSP00000449934.2:p.Ala245Thr
ENST00000552573.7:c.745G>A	ENSP00000447182.3:p.Ala249Thr
ENST00000548365.6:c.514G>A	ENSP00000448518.2:p.Ala172Thr
ENST00000549021.6:c.502G>A	ENSP00000449028.2:p.Ala168Thr
ENST00000698941.1:c.745G>A	ENSP00000514048.1:p.Ala249Thr
ENST00000698942.1:c.*736G>A	ENSP00000514049.1:n.*736G>A
ENST00000374994.9:c.940G>A MANE Select	ENSP00000364133.4:p.Ala314Thr
ENST00000374990.6:c.709G>A	ENSP00000364129.2:p.Ala237Thr
ENST00000374994.8:c.940G>A	ENSP00000364133.4:p.Ala314Thr
ENST00000549766.5:c.952G>A	ENSP00000446685.1:p.Ala318Thr
ENST00000550253.1:c.733G>A	ENSP00000450052.1:p.Ala245Thr
ENST00000552516.5:c.952G>A	ENSP00000447297.1:p.Ala318Thr
NM_001130916.1:c.709G>A	NP_001124388.1:p.Ala237Thr
NM_001130916.2:c.709G>A	NP_001124388.1:p.Ala237Thr
NM_001306210.1:c.952G>A	NP_001293139.1:p.Ala318Thr
NM_004612.2:c.940G>A	NP_004603.1:p.Ala314Thr
NM_004612.3:c.940G>A	NP_004603.1:p.Ala314Thr
XM_011518948.1:c.745G>A	XP_011517250.1:p.Ala249Thr
XM_011518949.1:c.733G>A	XP_011517251.1:p.Ala245Thr
XM_011518950.1:c.502G>A	XP_011517252.1:p.Ala168Thr
XM_011518948.2:c.745G>A	XP_011517250.1:p.Ala249Thr
XM_011518949.2:c.733G>A	XP_011517251.1:p.Ala245Thr
XM_011518950.2:c.502G>A	XP_011517252.1:p.Ala168Thr
XM_017015063.1:c.745G>A	XP_016870552.1:p.Ala249Thr
XM_024447658.1:c.733G>A	XP_024303426.1:p.Ala245Thr
NM_004612.4:c.940G>A MANE Select	NP_004603.1:p.Ala314Thr
NM_001130916.3:c.709G>A	NP_001124388.1:p.Ala237Thr
NM_001306210.2:c.952G>A	NP_001293139.1:p.Ala318Thr