Canonical Allele Identifier: CA2293887813
Gene: TTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595158C= , CM000680.2:g.31595158C= GRCh38
NC_000018.9:g.29175121C= , CM000680.1:g.29175121C= GRCh37
NC_000018.8:g.27429119C= NCBI36
NG_009490.1:g.8392C= , LRG_416:g.8392C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.239C= MANE Select ENSP00000237014.4:p.Thr80=
ENST00000610404.5:c.143C= ENSP00000477599.2:p.Thr48=
ENST00000649620.1:c.239C= ENSP00000497927.1:p.Thr80=
ENST00000237014.7:c.239C= ENSP00000237014.3:p.Thr80=
ENST00000541025.2:n.265C=
ENST00000610404.4:c.239C= ENSP00000477599.1:p.Thr80=
ENST00000613781.1:c.239C= ENSP00000479174.1:p.Thr80=
NM_000371.3:c.239C= , LRG_416t1:c.239C= NP_000362.1:p.Thr80=
NM_000371.4:c.239C= MANE Select NP_000362.1:p.Thr80=