Canonical Allele Identifier: CA1867255601

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137883C= , CM000671.2:g.99137883C=	GRCh38
NC_000009.11:g.101900165C= , CM000671.1:g.101900165C=	GRCh37
NC_000009.10:g.100939986C=	NCBI36
NG_007461.1:g.37754C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004612.4:c.599C= MANE Select	NP_004603.1:p.Thr200=
ENST00000374994.9:c.599C= MANE Select	ENSP00000364133.4:p.Thr200=
NM_001130916.1:c.368C=	NP_001124388.1:p.Thr123=
NM_001130916.2:c.368C=	NP_001124388.1:p.Thr123=
NM_001130916.3:c.368C=	NP_001124388.1:p.Thr123=
NM_001306210.1:c.611C=	NP_001293139.1:p.Thr204=
NM_001306210.2:c.611C=	NP_001293139.1:p.Thr204=
NM_004612.2:c.599C=	NP_004603.1:p.Thr200=
NM_004612.3:c.599C=	NP_004603.1:p.Thr200=
ENST00000374990.6:c.368C=	ENSP00000364129.2:p.Thr123=
ENST00000374994.8:c.599C=	ENSP00000364133.4:p.Thr200=
ENST00000547314.6:c.392C=	ENSP00000449934.2:p.Thr131=
ENST00000548365.6:c.380-4653C=	ENSP00000448518.2:n.380-4653C=
ENST00000549021.5:c.161C=	ENSP00000449028.1:p.Thr54=
ENST00000549021.6:c.161C=	ENSP00000449028.2:p.Thr54=
ENST00000549766.5:c.611C=	ENSP00000446685.1:p.Thr204=
ENST00000550253.1:c.392C=	ENSP00000450052.1:p.Thr131=
ENST00000552516.5:c.611C=	ENSP00000447297.1:p.Thr204=
ENST00000552573.7:c.404C=	ENSP00000447182.3:p.Thr135=
ENST00000698941.1:c.404C=	ENSP00000514048.1:p.Thr135=
ENST00000698942.1:c.*395C=	ENSP00000514049.1:n.*395C=
XM_011518948.1:c.404C=	XP_011517250.1:p.Thr135=
XM_011518948.2:c.404C=	XP_011517250.1:p.Thr135=
XM_011518949.1:c.392C=	XP_011517251.1:p.Thr131=
XM_011518949.2:c.392C=	XP_011517251.1:p.Thr131=
XM_011518950.1:c.161C=	XP_011517252.1:p.Thr54=
XM_011518950.2:c.161C=	XP_011517252.1:p.Thr54=
XM_017015063.1:c.404C=	XP_016870552.1:p.Thr135=
XM_024447658.1:c.392C=	XP_024303426.1:p.Thr131=