Canonical Allele Identifier: CA256847

Gene: TTR

Linked Data

• ClinVar Variation Id: 13453
• ClinVar RCV Id: RCV000014395 ; RCV000236623 ; RCV000763027 ; RCV002433455
• dbSNP Id: rs121918091
• gnomAD v2: 18-29175132-T-C
• gnomAD v4: 18-31595169-T-C
• MyVariant Identifiers: chr18:g.29175132T>C (hg19) ; chr18:g.31595169T>C (hg38)
• PubMed: PMID:2046936 ; PMID:8721565 ; PMID:15123043 ; PMID:17503405 ; PMID:22592564 ; PMID:22745357 ; PMID:26428663

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595169T>C , CM000680.2:g.31595169T>C	GRCh38
NC_000018.9:g.29175132T>C , CM000680.1:g.29175132T>C	GRCh37
NC_000018.8:g.27429130T>C	NCBI36
NG_009490.1:g.8403T>C , LRG_416:g.8403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.250T>C MANE Select	ENSP00000237014.4:p.Phe84Leu
ENST00000610404.5:c.154T>C	ENSP00000477599.2:p.Phe52Leu
ENST00000649620.1:c.250T>C	ENSP00000497927.1:p.Phe84Leu
ENST00000237014.7:c.250T>C	ENSP00000237014.3:p.Phe84Leu
ENST00000541025.2:n.276T>C
ENST00000610404.4:c.250T>C	ENSP00000477599.1:p.Phe84Leu
ENST00000613781.1:c.250T>C	ENSP00000479174.1:p.Phe84Leu
NM_000371.3:c.250T>C , LRG_416t1:c.250T>C	NP_000362.1:p.Phe84Leu
NM_000371.4:c.250T>C MANE Select	NP_000362.1:p.Phe84Leu