Canonical Allele Identifier: CA503610445
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 756218
ClinVar RCV Id: RCV001493107
dbSNP Id: rs876661395
MyVariant Identifiers: chr18:g.29175209G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595246G>A , CM000680.2:g.31595246G>A GRCh38
NC_000018.9:g.29175209G>A , CM000680.1:g.29175209G>A GRCh37
NC_000018.8:g.27429207G>A NCBI36
NG_009490.1:g.8480G>A , LRG_416:g.8480G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.327G>A MANE Select ENSP00000237014.4:p.Glu109=
ENST00000610404.5:c.231G>A ENSP00000477599.2:p.Glu77=
ENST00000649620.1:c.327G>A ENSP00000497927.1:p.Glu109=
ENST00000237014.7:c.327G>A ENSP00000237014.3:p.Glu109=
ENST00000541025.2:n.353G>A
ENST00000610404.4:c.327G>A ENSP00000477599.1:p.Glu109=
ENST00000613781.1:c.327G>A ENSP00000479174.1:p.Glu109=
NM_000371.3:c.327G>A , LRG_416t1:c.327G>A NP_000362.1:p.Glu109=
NM_000371.4:c.327G>A MANE Select NP_000362.1:p.Glu109=
Search 100 bp 5'
Search 100 bp 3'