Canonical Allele Identifier: CA322591
Gene: TGFBR1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99144810A>C , CM000671.2:g.99144810A>C GRCh38
NC_000009.11:g.101907092A>C , CM000671.1:g.101907092A>C GRCh37
NC_000009.10:g.100946913A>C NCBI36
NG_007461.1:g.44681A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.845A>C ENSP00000449934.2:p.Asp282Ala
ENST00000552573.7:c.857A>C ENSP00000447182.3:p.Asp286Ala
ENST00000548365.6:c.626A>C ENSP00000448518.2:p.Asp209Ala
ENST00000549021.6:c.614A>C ENSP00000449028.2:p.Asp205Ala
ENST00000698941.1:c.857A>C ENSP00000514048.1:p.Asp286Ala
ENST00000698942.1:c.*848A>C ENSP00000514049.1:n.*848A>C
ENST00000374994.9:c.1052A>C MANE Select ENSP00000364133.4:p.Asp351Ala
ENST00000374990.6:c.821A>C ENSP00000364129.2:p.Asp274Ala
ENST00000374994.8:c.1052A>C ENSP00000364133.4:p.Asp351Ala
ENST00000549766.5:c.1064A>C ENSP00000446685.1:p.Asp355Ala
ENST00000550253.1:c.845A>C ENSP00000450052.1:p.Asp282Ala
ENST00000552516.5:c.1064A>C ENSP00000447297.1:p.Asp355Ala
NM_001130916.1:c.821A>C NP_001124388.1:p.Asp274Ala
NM_001130916.2:c.821A>C NP_001124388.1:p.Asp274Ala
NM_001306210.1:c.1064A>C NP_001293139.1:p.Asp355Ala
NM_004612.2:c.1052A>C NP_004603.1:p.Asp351Ala
NM_004612.3:c.1052A>C NP_004603.1:p.Asp351Ala
XM_011518948.1:c.857A>C XP_011517250.1:p.Asp286Ala
XM_011518949.1:c.845A>C XP_011517251.1:p.Asp282Ala
XM_011518950.1:c.614A>C XP_011517252.1:p.Asp205Ala
XM_011518948.2:c.857A>C XP_011517250.1:p.Asp286Ala
XM_011518949.2:c.845A>C XP_011517251.1:p.Asp282Ala
XM_011518950.2:c.614A>C XP_011517252.1:p.Asp205Ala
XM_017015063.1:c.857A>C XP_016870552.1:p.Asp286Ala
XM_024447658.1:c.845A>C XP_024303426.1:p.Asp282Ala
NM_004612.4:c.1052A>C MANE Select NP_004603.1:p.Asp351Ala
NM_001130916.3:c.821A>C NP_001124388.1:p.Asp274Ala
NM_001306210.2:c.1064A>C NP_001293139.1:p.Asp355Ala