Canonical Allele Identifier: CA2293889361
Gene: TTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598631T= , CM000680.2:g.31598631T= GRCh38
NC_000018.9:g.29178594T= , CM000680.1:g.29178594T= GRCh37
NC_000018.8:g.27432592T= NCBI36
NG_009490.1:g.11865T= , LRG_416:g.11865T=

Transcript Alleles

HGVS Amino-acid Change
NM_000371.4:c.400T= MANE Select NP_000362.1:p.Tyr134=
ENST00000237014.8:c.400T= MANE Select ENSP00000237014.4:p.Tyr134=
NM_000371.3:c.400T= , LRG_416t1:c.400T= NP_000362.1:p.Tyr134=
ENST00000237014.7:c.400T= ENSP00000237014.3:p.Tyr134=
ENST00000610404.4:c.514T= ENSP00000477599.1:p.Tyr172=
ENST00000610404.5:c.304T= ENSP00000477599.2:p.Tyr102=
ENST00000613781.1:c.376T= ENSP00000479174.1:p.Tyr126=
ENST00000649620.1:c.400T= ENSP00000497927.1:p.Tyr134=