Canonical Allele Identifier: CA297742017
Gene: TTR HGNC NCBI

Linked Data

dbSNP Id: rs11541782

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598657C>T , CM000680.2:g.31598657C>T GRCh38
NC_000018.9:g.29178620C>T , CM000680.1:g.29178620C>T GRCh37
NC_000018.8:g.27432618C>T NCBI36
NG_009490.1:g.11891C>T , LRG_416:g.11891C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.426C>T MANE Select ENSP00000237014.4:p.Val142=
ENST00000610404.5:c.330C>T ENSP00000477599.2:p.Val110=
ENST00000649620.1:c.426C>T ENSP00000497927.1:p.Val142=
ENST00000237014.7:c.426C>T ENSP00000237014.3:p.Val142=
ENST00000610404.4:c.540C>T ENSP00000477599.1:p.Val180=
ENST00000613781.1:c.402C>T ENSP00000479174.1:p.Val134=
NM_000371.3:c.426C>T , LRG_416t1:c.426C>T NP_000362.1:p.Val142=
NM_000371.4:c.426C>T MANE Select NP_000362.1:p.Val142=