Canonical Allele Identifier: CA1867255572

Gene: TGFBR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99137867T= , CM000671.2:g.99137867T=	GRCh38
NC_000009.11:g.101900149T= , CM000671.1:g.101900149T=	GRCh37
NC_000009.10:g.100939970T=	NCBI36
NG_007461.1:g.37738T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.376T=	ENSP00000449934.2:p.Leu126=
ENST00000552573.7:c.388T=	ENSP00000447182.3:p.Leu130=
ENST00000548365.6:c.380-4669T=	ENSP00000448518.2:n.380-4669T=
ENST00000549021.6:c.145T=	ENSP00000449028.2:p.Leu49=
ENST00000698941.1:c.388T=	ENSP00000514048.1:p.Leu130=
ENST00000698942.1:c.*379T=	ENSP00000514049.1:n.*379T=
ENST00000374994.9:c.583T= MANE Select	ENSP00000364133.4:p.Leu195=
ENST00000374990.6:c.352T=	ENSP00000364129.2:p.Leu118=
ENST00000374994.8:c.583T=	ENSP00000364133.4:p.Leu195=
ENST00000549021.5:c.145T=	ENSP00000449028.1:p.Leu49=
ENST00000549766.5:c.595T=	ENSP00000446685.1:p.Leu199=
ENST00000550253.1:c.376T=	ENSP00000450052.1:p.Leu126=
ENST00000552516.5:c.595T=	ENSP00000447297.1:p.Leu199=
NM_001130916.1:c.352T=	NP_001124388.1:p.Leu118=
NM_001130916.2:c.352T=	NP_001124388.1:p.Leu118=
NM_001306210.1:c.595T=	NP_001293139.1:p.Leu199=
NM_004612.2:c.583T=	NP_004603.1:p.Leu195=
NM_004612.3:c.583T=	NP_004603.1:p.Leu195=
XM_011518948.1:c.388T=	XP_011517250.1:p.Leu130=
XM_011518949.1:c.376T=	XP_011517251.1:p.Leu126=
XM_011518950.1:c.145T=	XP_011517252.1:p.Leu49=
XM_011518948.2:c.388T=	XP_011517250.1:p.Leu130=
XM_011518949.2:c.376T=	XP_011517251.1:p.Leu126=
XM_011518950.2:c.145T=	XP_011517252.1:p.Leu49=
XM_017015063.1:c.388T=	XP_016870552.1:p.Leu130=
XM_024447658.1:c.376T=	XP_024303426.1:p.Leu126=
NM_004612.4:c.583T= MANE Select	NP_004603.1:p.Leu195=
NM_001130916.3:c.352T=	NP_001124388.1:p.Leu118=
NM_001306210.2:c.595T=	NP_001293139.1:p.Leu199=