Canonical Allele Identifier: CA2739580249
Gene: TTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595307C>T , CM000680.2:g.31595307C>T GRCh38
NC_000018.9:g.29175270C>T , CM000680.1:g.29175270C>T GRCh37
NC_000018.8:g.27429268C>T NCBI36
NG_009490.1:g.8541C>T , LRG_416:g.8541C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.336+52C>T MANE Select ENSP00000237014.4:n.336+52C>T
ENST00000610404.5:c.240+52C>T ENSP00000477599.2:n.240+52C>T
ENST00000649620.1:c.336+52C>T ENSP00000497927.1:n.336+52C>T
ENST00000237014.7:c.336+52C>T ENSP00000237014.3:n.336+52C>T
ENST00000541025.2:n.414C>T
ENST00000610404.4:c.357+31C>T ENSP00000477599.1:n.357+31C>T
ENST00000613781.1:c.336+52C>T ENSP00000479174.1:n.336+52C>T
NM_000371.3:c.336+52C>T , LRG_416t1:c.336+52C>T NP_000362.1:n.336+52C>T
NM_000371.4:c.336+52C>T MANE Select NP_000362.1:n.336+52C>T