Canonical Allele Identifier: CA402158175
Gene: TTR HGNC NCBI

Linked Data

COSMIC: COSM316297

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598598C>A , CM000680.2:g.31598598C>A GRCh38
NC_000018.9:g.29178561C>A , CM000680.1:g.29178561C>A GRCh37
NC_000018.8:g.27432559C>A NCBI36
NG_009490.1:g.11832C>A , LRG_416:g.11832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.367C>A MANE Select ENSP00000237014.4:p.Arg123Ser
ENST00000610404.5:c.271C>A ENSP00000477599.2:p.Arg91Ser
ENST00000649620.1:c.367C>A ENSP00000497927.1:p.Arg123Ser
ENST00000237014.7:c.367C>A ENSP00000237014.3:p.Arg123Ser
ENST00000610404.4:c.481C>A ENSP00000477599.1:p.Arg161Ser
ENST00000613781.1:c.367C>A ENSP00000479174.1:p.Arg123Ser
NM_000371.3:c.367C>A , LRG_416t1:c.367C>A NP_000362.1:p.Arg123Ser
NM_000371.4:c.367C>A MANE Select NP_000362.1:p.Arg123Ser