Canonical Allele Identifier: CA466434210
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1325342802
MyVariant Identifiers: chr9:g.101900271C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137989C>A , CM000671.2:g.99137989C>A GRCh38
NC_000009.11:g.101900271C>A , CM000671.1:g.101900271C>A GRCh37
NC_000009.10:g.100940092C>A NCBI36
NG_007461.1:g.37860C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.498C>A ENSP00000449934.2:p.Ser166=
ENST00000552573.7:c.510C>A ENSP00000447182.3:p.Ser170=
ENST00000548365.6:c.380-4547C>A ENSP00000448518.2:n.380-4547C>A
ENST00000549021.6:c.267C>A ENSP00000449028.2:p.Ser89=
ENST00000698941.1:c.510C>A ENSP00000514048.1:p.Ser170=
ENST00000698942.1:c.*501C>A ENSP00000514049.1:n.*501C>A
ENST00000374994.9:c.705C>A MANE Select ENSP00000364133.4:p.Ser235=
ENST00000374990.6:c.474C>A ENSP00000364129.2:p.Ser158=
ENST00000374994.8:c.705C>A ENSP00000364133.4:p.Ser235=
ENST00000549021.5:c.267C>A ENSP00000449028.1:p.Ser89=
ENST00000549766.5:c.717C>A ENSP00000446685.1:p.Ser239=
ENST00000550253.1:c.498C>A ENSP00000450052.1:p.Ser166=
ENST00000552516.5:c.717C>A ENSP00000447297.1:p.Ser239=
NM_001130916.1:c.474C>A NP_001124388.1:p.Ser158=
NM_001130916.2:c.474C>A NP_001124388.1:p.Ser158=
NM_001306210.1:c.717C>A NP_001293139.1:p.Ser239=
NM_004612.2:c.705C>A NP_004603.1:p.Ser235=
NM_004612.3:c.705C>A NP_004603.1:p.Ser235=
XM_011518948.1:c.510C>A XP_011517250.1:p.Ser170=
XM_011518949.1:c.498C>A XP_011517251.1:p.Ser166=
XM_011518950.1:c.267C>A XP_011517252.1:p.Ser89=
XM_011518948.2:c.510C>A XP_011517250.1:p.Ser170=
XM_011518949.2:c.498C>A XP_011517251.1:p.Ser166=
XM_011518950.2:c.267C>A XP_011517252.1:p.Ser89=
XM_017015063.1:c.510C>A XP_016870552.1:p.Ser170=
XM_024447658.1:c.498C>A XP_024303426.1:p.Ser166=
NM_004612.4:c.705C>A MANE Select NP_004603.1:p.Ser235=
NM_001130916.3:c.474C>A NP_001124388.1:p.Ser158=
NM_001306210.2:c.717C>A NP_001293139.1:p.Ser239=