Canonical Allele Identifier: CA466434500

Gene: TGFBR1

Linked Data

• MyVariant Identifiers: chr9:g.101904930T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142648T>G , CM000671.2:g.99142648T>G	GRCh38
NC_000009.11:g.101904930T>G , CM000671.1:g.101904930T>G	GRCh37
NC_000009.10:g.100944751T>G	NCBI36
NG_007461.1:g.42519T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.711T>G	ENSP00000449934.2:p.Ala237=
ENST00000552573.7:c.723T>G	ENSP00000447182.3:p.Ala241=
ENST00000548365.6:c.492T>G	ENSP00000448518.2:p.Ala164=
ENST00000549021.6:c.480T>G	ENSP00000449028.2:p.Ala160=
ENST00000698941.1:c.723T>G	ENSP00000514048.1:p.Ala241=
ENST00000698942.1:c.*714T>G	ENSP00000514049.1:n.*714T>G
ENST00000374994.9:c.918T>G MANE Select	ENSP00000364133.4:p.Ala306=
ENST00000374990.6:c.687T>G	ENSP00000364129.2:p.Ala229=
ENST00000374994.8:c.918T>G	ENSP00000364133.4:p.Ala306=
ENST00000549766.5:c.930T>G	ENSP00000446685.1:p.Ala310=
ENST00000550253.1:c.711T>G	ENSP00000450052.1:p.Ala237=
ENST00000552516.5:c.930T>G	ENSP00000447297.1:p.Ala310=
NM_001130916.1:c.687T>G	NP_001124388.1:p.Ala229=
NM_001130916.2:c.687T>G	NP_001124388.1:p.Ala229=
NM_001306210.1:c.930T>G	NP_001293139.1:p.Ala310=
NM_004612.2:c.918T>G	NP_004603.1:p.Ala306=
NM_004612.3:c.918T>G	NP_004603.1:p.Ala306=
XM_011518948.1:c.723T>G	XP_011517250.1:p.Ala241=
XM_011518949.1:c.711T>G	XP_011517251.1:p.Ala237=
XM_011518950.1:c.480T>G	XP_011517252.1:p.Ala160=
XM_011518948.2:c.723T>G	XP_011517250.1:p.Ala241=
XM_011518949.2:c.711T>G	XP_011517251.1:p.Ala237=
XM_011518950.2:c.480T>G	XP_011517252.1:p.Ala160=
XM_017015063.1:c.723T>G	XP_016870552.1:p.Ala241=
XM_024447658.1:c.711T>G	XP_024303426.1:p.Ala237=
NM_004612.4:c.918T>G MANE Select	NP_004603.1:p.Ala306=
NM_001130916.3:c.687T>G	NP_001124388.1:p.Ala229=
NM_001306210.2:c.930T>G	NP_001293139.1:p.Ala310=