Canonical Allele Identifier: CA123101
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 13434
dbSNP Id: rs28933981

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598647C>T , CM000680.2:g.31598647C>T GRCh38
NC_000018.9:g.29178610C>T , CM000680.1:g.29178610C>T GRCh37
NC_000018.8:g.27432608C>T NCBI36
NG_009490.1:g.11881C>T , LRG_416:g.11881C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.416C>T MANE Select ENSP00000237014.4:p.Thr139Met
ENST00000610404.5:c.320C>T ENSP00000477599.2:p.Thr107Met
ENST00000649620.1:c.416C>T ENSP00000497927.1:p.Thr139Met
ENST00000237014.7:c.416C>T ENSP00000237014.3:p.Thr139Met
ENST00000610404.4:c.530C>T ENSP00000477599.1:p.Thr177Met
ENST00000613781.1:c.392C>T ENSP00000479174.1:p.Thr131Met
NM_000371.3:c.416C>T , LRG_416t1:c.416C>T NP_000362.1:p.Thr139Met
NM_000371.4:c.416C>T MANE Select NP_000362.1:p.Thr139Met