Canonical Allele Identifier: CA402156634
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2169600
ClinVar RCV Id: RCV003084912
dbSNP Id: rs1258875883

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592945T>C , CM000680.2:g.31592945T>C GRCh38
NC_000018.9:g.29172908T>C , CM000680.1:g.29172908T>C GRCh37
NC_000018.8:g.27426906T>C NCBI36
NG_009490.1:g.6179T>C , LRG_416:g.6179T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.119T>C MANE Select ENSP00000237014.4:p.Val40Ala
ENST00000610404.5:c.23T>C ENSP00000477599.2:p.Val8Ala
ENST00000649620.1:c.119T>C ENSP00000497927.1:p.Val40Ala
ENST00000237014.7:c.119T>C ENSP00000237014.3:p.Val40Ala
ENST00000432547.7:n.145T>C
ENST00000541025.2:n.145T>C
ENST00000610404.4:c.119T>C ENSP00000477599.1:p.Val40Ala
ENST00000613781.1:c.119T>C ENSP00000479174.1:p.Val40Ala
NM_000371.3:c.119T>C , LRG_416t1:c.119T>C NP_000362.1:p.Val40Ala
NM_000371.4:c.119T>C MANE Select NP_000362.1:p.Val40Ala