Canonical Allele Identifier: CA10587682

Gene: TGFBR1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99138041A>G , CM000671.2:g.99138041A>G	GRCh38
NC_000009.11:g.101900323A>G , CM000671.1:g.101900323A>G	GRCh37
NC_000009.10:g.100940144A>G	NCBI36
NG_007461.1:g.37912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.550A>G	ENSP00000449934.2:p.Met184Val
ENST00000552573.7:c.562A>G	ENSP00000447182.3:p.Met188Val
ENST00000548365.6:c.380-4495A>G	ENSP00000448518.2:n.380-4495A>G
ENST00000549021.6:c.319A>G	ENSP00000449028.2:p.Met107Val
ENST00000698941.1:c.562A>G	ENSP00000514048.1:p.Met188Val
ENST00000698942.1:c.*553A>G	ENSP00000514049.1:n.*553A>G
ENST00000374994.9:c.757A>G MANE Select	ENSP00000364133.4:p.Met253Val
ENST00000374990.6:c.526A>G	ENSP00000364129.2:p.Met176Val
ENST00000374994.8:c.757A>G	ENSP00000364133.4:p.Met253Val
ENST00000549021.5:c.319A>G	ENSP00000449028.1:p.Met107Val
ENST00000549766.5:c.769A>G	ENSP00000446685.1:p.Met257Val
ENST00000550253.1:c.550A>G	ENSP00000450052.1:p.Met184Val
ENST00000552516.5:c.769A>G	ENSP00000447297.1:p.Met257Val
NM_001130916.1:c.526A>G	NP_001124388.1:p.Met176Val
NM_001130916.2:c.526A>G	NP_001124388.1:p.Met176Val
NM_001306210.1:c.769A>G	NP_001293139.1:p.Met257Val
NM_004612.2:c.757A>G	NP_004603.1:p.Met253Val
NM_004612.3:c.757A>G	NP_004603.1:p.Met253Val
XM_011518948.1:c.562A>G	XP_011517250.1:p.Met188Val
XM_011518949.1:c.550A>G	XP_011517251.1:p.Met184Val
XM_011518950.1:c.319A>G	XP_011517252.1:p.Met107Val
XM_011518948.2:c.562A>G	XP_011517250.1:p.Met188Val
XM_011518949.2:c.550A>G	XP_011517251.1:p.Met184Val
XM_011518950.2:c.319A>G	XP_011517252.1:p.Met107Val
XM_017015063.1:c.562A>G	XP_016870552.1:p.Met188Val
XM_024447658.1:c.550A>G	XP_024303426.1:p.Met184Val
NM_004612.4:c.757A>G MANE Select	NP_004603.1:p.Met253Val
NM_001130916.3:c.526A>G	NP_001124388.1:p.Met176Val
NM_001306210.2:c.769A>G	NP_001293139.1:p.Met257Val