Canonical Allele Identifier: CA256853
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 13457
ClinVar RCV Id: RCV000014399 RCV001001339
dbSNP Id: rs121918094
MyVariant Identifiers: chr18:g.29172884T>C (hg19) chr18:g.31592921T>C (hg38)
PubMed: PMID:10071047
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592921T>C , CM000680.2:g.31592921T>C GRCh38
NC_000018.9:g.29172884T>C , CM000680.1:g.29172884T>C GRCh37
NC_000018.8:g.27426882T>C NCBI36
NG_009490.1:g.6155T>C , LRG_416:g.6155T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.95T>C MANE Select ENSP00000237014.4:p.Leu32Pro
ENST00000610404.5:c.-2T>C ENSP00000477599.2:n.-2T>C
ENST00000649620.1:c.95T>C ENSP00000497927.1:p.Leu32Pro
ENST00000237014.7:c.95T>C ENSP00000237014.3:p.Leu32Pro
ENST00000432547.7:n.121T>C
ENST00000541025.2:n.121T>C
ENST00000610404.4:c.95T>C ENSP00000477599.1:p.Leu32Pro
ENST00000613781.1:c.95T>C ENSP00000479174.1:p.Leu32Pro
NM_000371.3:c.95T>C , LRG_416t1:c.95T>C NP_000362.1:p.Leu32Pro
NM_000371.4:c.95T>C MANE Select NP_000362.1:p.Leu32Pro
Search 100 bp 5'
Search 100 bp 3'