Canonical Allele Identifier: CA008882
Gene: TGFBR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12520
ClinVar RCV Id: RCV000119102
dbSNP Id: rs121918710

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99142683T>G , CM000671.2:g.99142683T>G GRCh38
NC_000009.11:g.101904965T>G , CM000671.1:g.101904965T>G GRCh37
NC_000009.10:g.100944786T>G NCBI36
NG_007461.1:g.42554T>G

Transcript Alleles

HGVS Amino-acid change
NM_001130916.1:c.722T>G VV NP_001124388.1:p.Met241Arg
NM_001130916.2:c.722T>G VV NP_001124388.1:p.Met241Arg
NM_001306210.1:c.965T>G VV NP_001293139.1:p.Met322Arg
NM_004612.2:c.953T>G VV NP_004603.1:p.Met318Arg
NM_004612.3:c.953T>G VV NP_004603.1:p.Met318Arg
XM_011518948.1:c.758T>G XP_011517250.1:p.Met253Arg
XM_011518949.1:c.746T>G XP_011517251.1:p.Met249Arg
XM_011518950.1:c.515T>G XP_011517252.1:p.Met172Arg
XM_011518948.2:c.758T>G XP_011517250.1:p.Met253Arg
XM_011518949.2:c.746T>G XP_011517251.1:p.Met249Arg
XM_011518950.2:c.515T>G XP_011517252.1:p.Met172Arg
XM_017015063.1:c.758T>G XP_016870552.1:p.Met253Arg
XM_024447658.1:c.746T>G XP_024303426.1:p.Met249Arg
NM_004612.4:c.953T>G VV MANE Preferred NP_004603.1:p.Met318Arg
ENST00000374990.6:c.722T>G ENSP00000364129.2:p.Met241Arg
ENST00000374994.8:c.953T>G ENSP00000364133.4:p.Met318Arg
ENST00000549766.5:c.965T>G ENSP00000446685.1:p.Met322Arg
ENST00000550253.1:c.746T>G ENSP00000450052.1:p.Met249Arg
ENST00000552516.5:c.965T>G ENSP00000447297.1:p.Met322Arg