Canonical Allele Identifier: CA297540
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 181702
dbSNP Id: rs730881169

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31593020C>A , CM000680.2:g.31593020C>A GRCh38
NC_000018.9:g.29172983C>A , CM000680.1:g.29172983C>A GRCh37
NC_000018.8:g.27426981C>A NCBI36
NG_009490.1:g.6254C>A , LRG_416:g.6254C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.194C>A MANE Select ENSP00000237014.4:p.Ala65Asp
ENST00000610404.5:c.98C>A ENSP00000477599.2:p.Ala33Asp
ENST00000649620.1:c.194C>A ENSP00000497927.1:p.Ala65Asp
ENST00000237014.7:c.194C>A ENSP00000237014.3:p.Ala65Asp
ENST00000432547.7:n.220C>A
ENST00000541025.2:n.220C>A
ENST00000610404.4:c.194C>A ENSP00000477599.1:p.Ala65Asp
ENST00000613781.1:c.194C>A ENSP00000479174.1:p.Ala65Asp
NM_000371.3:c.194C>A , LRG_416t1:c.194C>A NP_000362.1:p.Ala65Asp
NM_000371.4:c.194C>A MANE Select NP_000362.1:p.Ala65Asp