Canonical Allele Identifier: CA256800

Gene: TTR

Linked Data

• ClinVar Variation Id: 13422
• ClinVar RCV Id: RCV000014364 ; RCV000519257 ; RCV001000742 ; RCV001173289 ; RCV002504783 ; RCV002433454
• dbSNP Id: rs121918071
• gnomAD v4: 18-31595209-C-A
• MyVariant Identifiers: chr18:g.29175172C>A (hg19) ; chr18:g.31595209C>A (hg38)
• PubMed: PMID:1981182 ; PMID:1997217 ; PMID:2840822 ; PMID:2877582 ; PMID:2891727 ; PMID:7608709 ; PMID:7655883 ; PMID:8509786 ; PMID:9771673 ; PMID:17503405 ; PMID:26369527

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595209C>A , CM000680.2:g.31595209C>A	GRCh38
NC_000018.9:g.29175172C>A , CM000680.1:g.29175172C>A	GRCh37
NC_000018.8:g.27429170C>A	NCBI36
NG_009490.1:g.8443C>A , LRG_416:g.8443C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.290C>A MANE Select	ENSP00000237014.4:p.Ser97Tyr
ENST00000610404.5:c.194C>A	ENSP00000477599.2:p.Ser65Tyr
ENST00000649620.1:c.290C>A	ENSP00000497927.1:p.Ser97Tyr
ENST00000237014.7:c.290C>A	ENSP00000237014.3:p.Ser97Tyr
ENST00000541025.2:n.316C>A
ENST00000610404.4:c.290C>A	ENSP00000477599.1:p.Ser97Tyr
ENST00000613781.1:c.290C>A	ENSP00000479174.1:p.Ser97Tyr
NM_000371.3:c.290C>A , LRG_416t1:c.290C>A	NP_000362.1:p.Ser97Tyr
NM_000371.4:c.290C>A MANE Select	NP_000362.1:p.Ser97Tyr