Canonical Allele Identifier: CA1867255886

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99138006C= , CM000671.2:g.99138006C=	GRCh38
NC_000009.11:g.101900288C= , CM000671.1:g.101900288C=	GRCh37
NC_000009.10:g.100940109C=	NCBI36
NG_007461.1:g.37877C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004612.4:c.722C= MANE Select	NP_004603.1:p.Ser241=
ENST00000374994.9:c.722C= MANE Select	ENSP00000364133.4:p.Ser241=
NM_001130916.1:c.491C=	NP_001124388.1:p.Ser164=
NM_001130916.2:c.491C=	NP_001124388.1:p.Ser164=
NM_001130916.3:c.491C=	NP_001124388.1:p.Ser164=
NM_001306210.1:c.734C=	NP_001293139.1:p.Ser245=
NM_001306210.2:c.734C=	NP_001293139.1:p.Ser245=
NM_004612.2:c.722C=	NP_004603.1:p.Ser241=
NM_004612.3:c.722C=	NP_004603.1:p.Ser241=
ENST00000374990.6:c.491C=	ENSP00000364129.2:p.Ser164=
ENST00000374994.8:c.722C=	ENSP00000364133.4:p.Ser241=
ENST00000547314.6:c.515C=	ENSP00000449934.2:p.Ser172=
ENST00000548365.6:c.380-4530C=	ENSP00000448518.2:n.380-4530C=
ENST00000549021.5:c.284C=	ENSP00000449028.1:p.Ser95=
ENST00000549021.6:c.284C=	ENSP00000449028.2:p.Ser95=
ENST00000549766.5:c.734C=	ENSP00000446685.1:p.Ser245=
ENST00000550253.1:c.515C=	ENSP00000450052.1:p.Ser172=
ENST00000552516.5:c.734C=	ENSP00000447297.1:p.Ser245=
ENST00000552573.7:c.527C=	ENSP00000447182.3:p.Ser176=
ENST00000698941.1:c.527C=	ENSP00000514048.1:p.Ser176=
ENST00000698942.1:c.*518C=	ENSP00000514049.1:n.*518C=
XM_011518948.1:c.527C=	XP_011517250.1:p.Ser176=
XM_011518948.2:c.527C=	XP_011517250.1:p.Ser176=
XM_011518949.1:c.515C=	XP_011517251.1:p.Ser172=
XM_011518949.2:c.515C=	XP_011517251.1:p.Ser172=
XM_011518950.1:c.284C=	XP_011517252.1:p.Ser95=
XM_011518950.2:c.284C=	XP_011517252.1:p.Ser95=
XM_017015063.1:c.527C=	XP_016870552.1:p.Ser176=
XM_024447658.1:c.515C=	XP_024303426.1:p.Ser172=