Canonical Allele Identifier: CA256839
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 13447
dbSNP Id: rs121918086

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595160G>A , CM000680.2:g.31595160G>A GRCh38
NC_000018.9:g.29175123G>A , CM000680.1:g.29175123G>A GRCh37
NC_000018.8:g.27429121G>A NCBI36
NG_009490.1:g.8394G>A , LRG_416:g.8394G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.241G>A MANE Select ENSP00000237014.4:p.Glu81Lys
ENST00000610404.5:c.145G>A ENSP00000477599.2:p.Glu49Lys
ENST00000649620.1:c.241G>A ENSP00000497927.1:p.Glu81Lys
ENST00000237014.7:c.241G>A ENSP00000237014.3:p.Glu81Lys
ENST00000541025.2:n.267G>A
ENST00000610404.4:c.241G>A ENSP00000477599.1:p.Glu81Lys
ENST00000613781.1:c.241G>A ENSP00000479174.1:p.Glu81Lys
NM_000371.3:c.241G>A , LRG_416t1:c.241G>A NP_000362.1:p.Glu81Lys
NM_000371.4:c.241G>A MANE Select NP_000362.1:p.Glu81Lys