Canonical Allele Identifier: CA402158137
Gene: TTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598576C>G , CM000680.2:g.31598576C>G GRCh38
NC_000018.9:g.29178539C>G , CM000680.1:g.29178539C>G GRCh37
NC_000018.8:g.27432537C>G NCBI36
NG_009490.1:g.11810C>G , LRG_416:g.11810C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.345C>G MANE Select ENSP00000237014.4:p.Phe115Leu
ENST00000610404.5:c.249C>G ENSP00000477599.2:p.Phe83Leu
ENST00000649620.1:c.345C>G ENSP00000497927.1:p.Phe115Leu
ENST00000237014.7:c.345C>G ENSP00000237014.3:p.Phe115Leu
ENST00000610404.4:c.459C>G ENSP00000477599.1:p.Phe153Leu
ENST00000613781.1:c.345C>G ENSP00000479174.1:p.Phe115Leu
NM_000371.3:c.345C>G , LRG_416t1:c.345C>G NP_000362.1:p.Phe115Leu
NM_000371.4:c.345C>G MANE Select NP_000362.1:p.Phe115Leu