Canonical Allele Identifier: CA1867260180
Community Standard Title: NM_004612.4(TGFBR1):c.934G= (p.Gly312=)
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004612.4:c.934G= MANE Select NP_004603.1:p.Gly312=
ENST00000374994.9:c.934G= MANE Select ENSP00000364133.4:p.Gly312=
NM_001130916.1:c.703G= NP_001124388.1:p.Gly235=
NM_001130916.2:c.703G= NP_001124388.1:p.Gly235=
NM_001130916.3:c.703G= NP_001124388.1:p.Gly235=
NM_001306210.1:c.946G= NP_001293139.1:p.Gly316=
NM_001306210.2:c.946G= NP_001293139.1:p.Gly316=
NM_004612.2:c.934G= NP_004603.1:p.Gly312=
NM_004612.3:c.934G= NP_004603.1:p.Gly312=
ENST00000374990.6:c.703G= ENSP00000364129.2:p.Gly235=
ENST00000374994.8:c.934G= ENSP00000364133.4:p.Gly312=
ENST00000547314.6:c.727G= ENSP00000449934.2:p.Gly243=
ENST00000548365.6:c.508G= ENSP00000448518.2:p.Gly170=
ENST00000549021.6:c.496G= ENSP00000449028.2:p.Gly166=
ENST00000549766.5:c.946G= ENSP00000446685.1:p.Gly316=
ENST00000550253.1:c.727G= ENSP00000450052.1:p.Gly243=
ENST00000552516.5:c.946G= ENSP00000447297.1:p.Gly316=
ENST00000552573.7:c.739G= ENSP00000447182.3:p.Gly247=
ENST00000698941.1:c.739G= ENSP00000514048.1:p.Gly247=
ENST00000698942.1:c.*730G= ENSP00000514049.1:n.*730G=
XM_011518948.1:c.739G= XP_011517250.1:p.Gly247=
XM_011518948.2:c.739G= XP_011517250.1:p.Gly247=
XM_011518949.1:c.727G= XP_011517251.1:p.Gly243=
XM_011518949.2:c.727G= XP_011517251.1:p.Gly243=
XM_011518950.1:c.496G= XP_011517252.1:p.Gly166=
XM_011518950.2:c.496G= XP_011517252.1:p.Gly166=
XM_017015063.1:c.739G= XP_016870552.1:p.Gly247=
XM_024447658.1:c.727G= XP_024303426.1:p.Gly243=