Canonical Allele Identifier: CA256810

Gene: TTR

Linked Data

• ClinVar Variation Id: 13430
• ClinVar RCV Id: RCV000014372
• dbSNP Id: rs79977247
• MyVariant Identifiers: chr18:g.29172938T>C (hg19) ; chr18:g.31592975T>C (hg38)
• PubMed: PMID:1544214 ; PMID:1850191

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592975T>C , CM000680.2:g.31592975T>C	GRCh38
NC_000018.9:g.29172938T>C , CM000680.1:g.29172938T>C	GRCh37
NC_000018.8:g.27426936T>C	NCBI36
NG_009490.1:g.6209T>C , LRG_416:g.6209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.149T>C MANE Select	ENSP00000237014.4:p.Val50Ala
ENST00000610404.5:c.53T>C	ENSP00000477599.2:p.Val18Ala
ENST00000649620.1:c.149T>C	ENSP00000497927.1:p.Val50Ala
ENST00000237014.7:c.149T>C	ENSP00000237014.3:p.Val50Ala
ENST00000432547.7:n.175T>C
ENST00000541025.2:n.175T>C
ENST00000610404.4:c.149T>C	ENSP00000477599.1:p.Val50Ala
ENST00000613781.1:c.149T>C	ENSP00000479174.1:p.Val50Ala
NM_000371.3:c.149T>C , LRG_416t1:c.149T>C	NP_000362.1:p.Val50Ala
NM_000371.4:c.149T>C MANE Select	NP_000362.1:p.Val50Ala