Canonical Allele Identifier: CA13099575
Gene: TGFBR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99106460G>A , CM000671.2:g.99106460G>A GRCh38
NC_000009.11:g.101868742G>A , CM000671.1:g.101868742G>A GRCh37
NC_000009.10:g.100908563G>A NCBI36
NG_007461.1:g.6331G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.-111+2354G>A ENSP00000449934.2:n.-111+2354G>A
ENST00000552573.7:c.-111+2354G>A ENSP00000447182.3:n.-111+2354G>A
ENST00000698941.1:c.-111+1335G>A ENSP00000514048.1:n.-111+1335G>A
ENST00000374994.9:c.97+1158G>A MANE Select ENSP00000364133.4:n.97+1158G>A
ENST00000374990.6:c.97+1158G>A ENSP00000364129.2:n.97+1158G>A
ENST00000374994.8:c.97+1158G>A ENSP00000364133.4:n.97+1158G>A
ENST00000547314.5:c.-111+2354G>A ENSP00000449934.1:n.-111+2354G>A
ENST00000549766.5:c.97+1158G>A ENSP00000446685.1:n.97+1158G>A
ENST00000552516.5:c.97+1158G>A ENSP00000447297.1:n.97+1158G>A
ENST00000552573.6:c.-111+2354G>A ENSP00000447182.2:n.-111+2354G>A
NM_001130916.1:c.97+1158G>A NP_001124388.1:n.97+1158G>A
NM_001130916.2:c.97+1158G>A NP_001124388.1:n.97+1158G>A
NM_001306210.1:c.97+1158G>A NP_001293139.1:n.97+1158G>A
NM_004612.2:c.97+1158G>A NP_004603.1:n.97+1158G>A
NM_004612.3:c.97+1158G>A NP_004603.1:n.97+1158G>A
XM_011518949.1:c.-111+2354G>A XP_011517251.1:n.-111+2354G>A
XM_011518949.2:c.-111+2354G>A XP_011517251.1:n.-111+2354G>A
XM_017015063.1:c.-111+1335G>A XP_016870552.1:n.-111+1335G>A
NM_004612.4:c.97+1158G>A MANE Select NP_004603.1:n.97+1158G>A
NM_001130916.3:c.97+1158G>A NP_001124388.1:n.97+1158G>A
NM_001306210.2:c.97+1158G>A NP_001293139.1:n.97+1158G>A
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