Canonical Allele Identifier: CA256798
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 13421
dbSNP Id: rs121918070

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595157A>G , CM000680.2:g.31595157A>G GRCh38
NC_000018.9:g.29175120A>G , CM000680.1:g.29175120A>G GRCh37
NC_000018.8:g.27429118A>G NCBI36
NG_009490.1:g.8391A>G , LRG_416:g.8391A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.238A>G MANE Select ENSP00000237014.4:p.Thr80Ala
ENST00000610404.5:c.142A>G ENSP00000477599.2:p.Thr48Ala
ENST00000649620.1:c.238A>G ENSP00000497927.1:p.Thr80Ala
ENST00000237014.7:c.238A>G ENSP00000237014.3:p.Thr80Ala
ENST00000541025.2:n.264A>G
ENST00000610404.4:c.238A>G ENSP00000477599.1:p.Thr80Ala
ENST00000613781.1:c.238A>G ENSP00000479174.1:p.Thr80Ala
NM_000371.3:c.238A>G , LRG_416t1:c.238A>G NP_000362.1:p.Thr80Ala
NM_000371.4:c.238A>G MANE Select NP_000362.1:p.Thr80Ala