Canonical Allele Identifier: CA466434675
Gene: TGFBR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.101907048A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99144766A>T , CM000671.2:g.99144766A>T GRCh38
NC_000009.11:g.101907048A>T , CM000671.1:g.101907048A>T GRCh37
NC_000009.10:g.100946869A>T NCBI36
NG_007461.1:g.44637A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.801A>T ENSP00000449934.2:p.Ser267=
ENST00000552573.7:c.813A>T ENSP00000447182.3:p.Ser271=
ENST00000548365.6:c.582A>T ENSP00000448518.2:p.Ser194=
ENST00000549021.6:c.570A>T ENSP00000449028.2:p.Ser190=
ENST00000698941.1:c.813A>T ENSP00000514048.1:p.Ser271=
ENST00000698942.1:c.*804A>T ENSP00000514049.1:n.*804A>T
ENST00000374994.9:c.1008A>T MANE Select ENSP00000364133.4:p.Ser336=
ENST00000374990.6:c.777A>T ENSP00000364129.2:p.Ser259=
ENST00000374994.8:c.1008A>T ENSP00000364133.4:p.Ser336=
ENST00000549766.5:c.1020A>T ENSP00000446685.1:p.Ser340=
ENST00000550253.1:c.801A>T ENSP00000450052.1:p.Ser267=
ENST00000552516.5:c.1020A>T ENSP00000447297.1:p.Ser340=
NM_001130916.1:c.777A>T NP_001124388.1:p.Ser259=
NM_001130916.2:c.777A>T NP_001124388.1:p.Ser259=
NM_001306210.1:c.1020A>T NP_001293139.1:p.Ser340=
NM_004612.2:c.1008A>T NP_004603.1:p.Ser336=
NM_004612.3:c.1008A>T NP_004603.1:p.Ser336=
XM_011518948.1:c.813A>T XP_011517250.1:p.Ser271=
XM_011518949.1:c.801A>T XP_011517251.1:p.Ser267=
XM_011518950.1:c.570A>T XP_011517252.1:p.Ser190=
XM_011518948.2:c.813A>T XP_011517250.1:p.Ser271=
XM_011518949.2:c.801A>T XP_011517251.1:p.Ser267=
XM_011518950.2:c.570A>T XP_011517252.1:p.Ser190=
XM_017015063.1:c.813A>T XP_016870552.1:p.Ser271=
XM_024447658.1:c.801A>T XP_024303426.1:p.Ser267=
NM_004612.4:c.1008A>T MANE Select NP_004603.1:p.Ser336=
NM_001130916.3:c.777A>T NP_001124388.1:p.Ser259=
NM_001306210.2:c.1020A>T NP_001293139.1:p.Ser340=