Canonical Allele Identifier: CA123114
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 13463
ClinVar RCV Id: RCV000014405 RCV000036373
dbSNP Id: rs121918098
MyVariant Identifiers: chr18:g.29172902A>G (hg19) chr18:g.31592939A>G (hg38)
PubMed: PMID:8579098 PMID:8960746 PMID:11385707 PMID:12779320 PMID:14640030 PMID:15377697 PMID:20209591
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592939A>G , CM000680.2:g.31592939A>G GRCh38
NC_000018.9:g.29172902A>G , CM000680.1:g.29172902A>G GRCh37
NC_000018.8:g.27426900A>G NCBI36
NG_009490.1:g.6173A>G , LRG_416:g.6173A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.113A>G MANE Select ENSP00000237014.4:p.Asp38Gly
ENST00000610404.5:c.17A>G ENSP00000477599.2:p.Asp6Gly
ENST00000649620.1:c.113A>G ENSP00000497927.1:p.Asp38Gly
ENST00000237014.7:c.113A>G ENSP00000237014.3:p.Asp38Gly
ENST00000432547.7:n.139A>G
ENST00000541025.2:n.139A>G
ENST00000610404.4:c.113A>G ENSP00000477599.1:p.Asp38Gly
ENST00000613781.1:c.113A>G ENSP00000479174.1:p.Asp38Gly
NM_000371.3:c.113A>G , LRG_416t1:c.113A>G NP_000362.1:p.Asp38Gly
NM_000371.4:c.113A>G MANE Select NP_000362.1:p.Asp38Gly
Search 100 bp 5'
Search 100 bp 3'