Canonical Allele Identifier: CA2293886838
Gene: TTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592983T= , CM000680.2:g.31592983T= GRCh38
NC_000018.9:g.29172946T= , CM000680.1:g.29172946T= GRCh37
NC_000018.8:g.27426944T= NCBI36
NG_009490.1:g.6217T= , LRG_416:g.6217T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.157T= MANE Select ENSP00000237014.4:p.Phe53=
ENST00000610404.5:c.61T= ENSP00000477599.2:p.Phe21=
ENST00000649620.1:c.157T= ENSP00000497927.1:p.Phe53=
ENST00000237014.7:c.157T= ENSP00000237014.3:p.Phe53=
ENST00000432547.7:n.183T=
ENST00000541025.2:n.183T=
ENST00000610404.4:c.157T= ENSP00000477599.1:p.Phe53=
ENST00000613781.1:c.157T= ENSP00000479174.1:p.Phe53=
NM_000371.3:c.157T= , LRG_416t1:c.157T= NP_000362.1:p.Phe53=
NM_000371.4:c.157T= MANE Select NP_000362.1:p.Phe53=