Canonical Allele Identifier: CA043448

Gene: TGFBR1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142664G>A , CM000671.2:g.99142664G>A	GRCh38
NC_000009.11:g.101904946G>A , CM000671.1:g.101904946G>A	GRCh37
NC_000009.10:g.100944767G>A	NCBI36
NG_007461.1:g.42535G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.727G>A	ENSP00000449934.2:p.Gly243Ser
ENST00000552573.7:c.739G>A	ENSP00000447182.3:p.Gly247Ser
ENST00000548365.6:c.508G>A	ENSP00000448518.2:p.Gly170Ser
ENST00000549021.6:c.496G>A	ENSP00000449028.2:p.Gly166Ser
ENST00000698941.1:c.739G>A	ENSP00000514048.1:p.Gly247Ser
ENST00000698942.1:c.*730G>A	ENSP00000514049.1:n.*730G>A
ENST00000374994.9:c.934G>A MANE Select	ENSP00000364133.4:p.Gly312Ser
ENST00000374990.6:c.703G>A	ENSP00000364129.2:p.Gly235Ser
ENST00000374994.8:c.934G>A	ENSP00000364133.4:p.Gly312Ser
ENST00000549766.5:c.946G>A	ENSP00000446685.1:p.Gly316Ser
ENST00000550253.1:c.727G>A	ENSP00000450052.1:p.Gly243Ser
ENST00000552516.5:c.946G>A	ENSP00000447297.1:p.Gly316Ser
NM_001130916.1:c.703G>A	NP_001124388.1:p.Gly235Ser
NM_001130916.2:c.703G>A	NP_001124388.1:p.Gly235Ser
NM_001306210.1:c.946G>A	NP_001293139.1:p.Gly316Ser
NM_004612.2:c.934G>A	NP_004603.1:p.Gly312Ser
NM_004612.3:c.934G>A	NP_004603.1:p.Gly312Ser
XM_011518948.1:c.739G>A	XP_011517250.1:p.Gly247Ser
XM_011518949.1:c.727G>A	XP_011517251.1:p.Gly243Ser
XM_011518950.1:c.496G>A	XP_011517252.1:p.Gly166Ser
XM_011518948.2:c.739G>A	XP_011517250.1:p.Gly247Ser
XM_011518949.2:c.727G>A	XP_011517251.1:p.Gly243Ser
XM_011518950.2:c.496G>A	XP_011517252.1:p.Gly166Ser
XM_017015063.1:c.739G>A	XP_016870552.1:p.Gly247Ser
XM_024447658.1:c.727G>A	XP_024303426.1:p.Gly243Ser
NM_004612.4:c.934G>A MANE Select	NP_004603.1:p.Gly312Ser
NM_001130916.3:c.703G>A	NP_001124388.1:p.Gly235Ser
NM_001306210.2:c.946G>A	NP_001293139.1:p.Gly316Ser