Canonical Allele Identifier: CA402158203
Gene: TTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598614C>A , CM000680.2:g.31598614C>A GRCh38
NC_000018.9:g.29178577C>A , CM000680.1:g.29178577C>A GRCh37
NC_000018.8:g.27432575C>A NCBI36
NG_009490.1:g.11848C>A , LRG_416:g.11848C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.383C>A MANE Select ENSP00000237014.4:p.Ala128Asp
ENST00000610404.5:c.287C>A ENSP00000477599.2:p.Ala96Asp
ENST00000649620.1:c.383C>A ENSP00000497927.1:p.Ala128Asp
ENST00000237014.7:c.383C>A ENSP00000237014.3:p.Ala128Asp
ENST00000610404.4:c.497C>A ENSP00000477599.1:p.Ala166Asp
ENST00000613781.1:c.375+8C>A ENSP00000479174.1:n.375+8C>A
NM_000371.3:c.383C>A , LRG_416t1:c.383C>A NP_000362.1:p.Ala128Asp
NM_000371.4:c.383C>A MANE Select NP_000362.1:p.Ala128Asp