Canonical Allele Identifier: CA374229777
Gene: TGFBR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1307725
dbSNP Id: rs2118717180

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99138000A>G , CM000671.2:g.99138000A>G GRCh38
NC_000009.11:g.101900282A>G , CM000671.1:g.101900282A>G GRCh37
NC_000009.10:g.100940103A>G NCBI36
NG_007461.1:g.37871A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.509A>G ENSP00000449934.2:p.Glu170Gly
ENST00000552573.7:c.521A>G ENSP00000447182.3:p.Glu174Gly
ENST00000548365.6:c.380-4536A>G ENSP00000448518.2:n.380-4536A>G
ENST00000549021.6:c.278A>G ENSP00000449028.2:p.Glu93Gly
ENST00000698941.1:c.521A>G ENSP00000514048.1:p.Glu174Gly
ENST00000698942.1:c.*512A>G ENSP00000514049.1:n.*512A>G
ENST00000374994.9:c.716A>G MANE Select ENSP00000364133.4:p.Glu239Gly
ENST00000374990.6:c.485A>G ENSP00000364129.2:p.Glu162Gly
ENST00000374994.8:c.716A>G ENSP00000364133.4:p.Glu239Gly
ENST00000549021.5:c.278A>G ENSP00000449028.1:p.Glu93Gly
ENST00000549766.5:c.728A>G ENSP00000446685.1:p.Glu243Gly
ENST00000550253.1:c.509A>G ENSP00000450052.1:p.Glu170Gly
ENST00000552516.5:c.728A>G ENSP00000447297.1:p.Glu243Gly
NM_001130916.1:c.485A>G NP_001124388.1:p.Glu162Gly
NM_001130916.2:c.485A>G NP_001124388.1:p.Glu162Gly
NM_001306210.1:c.728A>G NP_001293139.1:p.Glu243Gly
NM_004612.2:c.716A>G NP_004603.1:p.Glu239Gly
NM_004612.3:c.716A>G NP_004603.1:p.Glu239Gly
XM_011518948.1:c.521A>G XP_011517250.1:p.Glu174Gly
XM_011518949.1:c.509A>G XP_011517251.1:p.Glu170Gly
XM_011518950.1:c.278A>G XP_011517252.1:p.Glu93Gly
XM_011518948.2:c.521A>G XP_011517250.1:p.Glu174Gly
XM_011518949.2:c.509A>G XP_011517251.1:p.Glu170Gly
XM_011518950.2:c.278A>G XP_011517252.1:p.Glu93Gly
XM_017015063.1:c.521A>G XP_016870552.1:p.Glu174Gly
XM_024447658.1:c.509A>G XP_024303426.1:p.Glu170Gly
NM_004612.4:c.716A>G MANE Select NP_004603.1:p.Glu239Gly
NM_001130916.3:c.485A>G NP_001124388.1:p.Glu162Gly
NM_001306210.2:c.728A>G NP_001293139.1:p.Glu243Gly