Canonical Allele Identifier: CA043393

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142659C>T , CM000671.2:g.99142659C>T	GRCh38
NC_000009.11:g.101904941C>T , CM000671.1:g.101904941C>T	GRCh37
NC_000009.10:g.100944762C>T	NCBI36
NG_007461.1:g.42530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.722C>T	ENSP00000449934.2:p.Ala241Val
ENST00000552573.7:c.734C>T	ENSP00000447182.3:p.Ala245Val
ENST00000548365.6:c.503C>T	ENSP00000448518.2:p.Ala168Val
ENST00000549021.6:c.491C>T	ENSP00000449028.2:p.Ala164Val
ENST00000698941.1:c.734C>T	ENSP00000514048.1:p.Ala245Val
ENST00000698942.1:c.*725C>T	ENSP00000514049.1:n.*725C>T
ENST00000374994.9:c.929C>T MANE Select	ENSP00000364133.4:p.Ala310Val
ENST00000374990.6:c.698C>T	ENSP00000364129.2:p.Ala233Val
ENST00000374994.8:c.929C>T	ENSP00000364133.4:p.Ala310Val
ENST00000549766.5:c.941C>T	ENSP00000446685.1:p.Ala314Val
ENST00000550253.1:c.722C>T	ENSP00000450052.1:p.Ala241Val
ENST00000552516.5:c.941C>T	ENSP00000447297.1:p.Ala314Val
NM_001130916.1:c.698C>T	NP_001124388.1:p.Ala233Val
NM_001130916.2:c.698C>T	NP_001124388.1:p.Ala233Val
NM_001306210.1:c.941C>T	NP_001293139.1:p.Ala314Val
NM_004612.2:c.929C>T	NP_004603.1:p.Ala310Val
NM_004612.3:c.929C>T	NP_004603.1:p.Ala310Val
XM_011518948.1:c.734C>T	XP_011517250.1:p.Ala245Val
XM_011518949.1:c.722C>T	XP_011517251.1:p.Ala241Val
XM_011518950.1:c.491C>T	XP_011517252.1:p.Ala164Val
XM_011518948.2:c.734C>T	XP_011517250.1:p.Ala245Val
XM_011518949.2:c.722C>T	XP_011517251.1:p.Ala241Val
XM_011518950.2:c.491C>T	XP_011517252.1:p.Ala164Val
XM_017015063.1:c.734C>T	XP_016870552.1:p.Ala245Val
XM_024447658.1:c.722C>T	XP_024303426.1:p.Ala241Val
NM_004612.4:c.929C>T MANE Select	NP_004603.1:p.Ala310Val
NM_001130916.3:c.698C>T	NP_001124388.1:p.Ala233Val
NM_001306210.2:c.941C>T	NP_001293139.1:p.Ala314Val