Canonical Allele Identifier: CA374233633

Gene: TGFBR1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99149218G>A , CM000671.2:g.99149218G>A	GRCh38
NC_000009.11:g.101911500G>A , CM000671.1:g.101911500G>A	GRCh37
NC_000009.10:g.100951321G>A	NCBI36
NG_007461.1:g.49089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.1218G>A	ENSP00000449934.2:p.Trp406Ter
ENST00000552573.7:c.1230G>A	ENSP00000447182.3:p.Trp410Ter
ENST00000548365.6:c.*347G>A	ENSP00000448518.2:n.*347G>A
ENST00000549021.6:c.987G>A	ENSP00000449028.2:p.Trp329Ter
ENST00000698941.1:c.1230G>A	ENSP00000514048.1:p.Trp410Ter
ENST00000698942.1:c.*1221G>A	ENSP00000514049.1:n.*1221G>A
ENST00000698943.1:n.992G>A
ENST00000374994.9:c.1425G>A MANE Select	ENSP00000364133.4:p.Trp475Ter
ENST00000374990.6:c.1194G>A	ENSP00000364129.2:p.Trp398Ter
ENST00000374994.8:c.1425G>A	ENSP00000364133.4:p.Trp475Ter
ENST00000549766.5:c.*160G>A	ENSP00000446685.1:n.*160G>A
ENST00000550253.1:c.1218G>A	ENSP00000450052.1:p.Trp406Ter
ENST00000552516.5:c.1437G>A	ENSP00000447297.1:p.Trp479Ter
NM_001130916.1:c.1194G>A	NP_001124388.1:p.Trp398Ter
NM_001130916.2:c.1194G>A	NP_001124388.1:p.Trp398Ter
NM_001306210.1:c.1437G>A	NP_001293139.1:p.Trp479Ter
NM_004612.2:c.1425G>A	NP_004603.1:p.Trp475Ter
NM_004612.3:c.1425G>A	NP_004603.1:p.Trp475Ter
XM_011518948.1:c.1230G>A	XP_011517250.1:p.Trp410Ter
XM_011518949.1:c.1218G>A	XP_011517251.1:p.Trp406Ter
XM_011518950.1:c.987G>A	XP_011517252.1:p.Trp329Ter
XM_011518948.2:c.1230G>A	XP_011517250.1:p.Trp410Ter
XM_011518949.2:c.1218G>A	XP_011517251.1:p.Trp406Ter
XM_011518950.2:c.987G>A	XP_011517252.1:p.Trp329Ter
XM_017015063.1:c.1230G>A	XP_016870552.1:p.Trp410Ter
XM_024447658.1:c.1218G>A	XP_024303426.1:p.Trp406Ter
NM_004612.4:c.1425G>A MANE Select	NP_004603.1:p.Trp475Ter
NM_001130916.3:c.1194G>A	NP_001124388.1:p.Trp398Ter
NM_001306210.2:c.1437G>A	NP_001293139.1:p.Trp479Ter