Canonical Allele Identifier: CA503609906
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2002330
ClinVar RCV Id: RCV002820326
MyVariant Identifiers: chr18:g.29172897T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592934T>A , CM000680.2:g.31592934T>A GRCh38
NC_000018.9:g.29172897T>A , CM000680.1:g.29172897T>A GRCh37
NC_000018.8:g.27426895T>A NCBI36
NG_009490.1:g.6168T>A , LRG_416:g.6168T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.108T>A MANE Select ENSP00000237014.4:p.Val36=
ENST00000610404.5:c.12T>A ENSP00000477599.2:p.Val4=
ENST00000649620.1:c.108T>A ENSP00000497927.1:p.Val36=
ENST00000237014.7:c.108T>A ENSP00000237014.3:p.Val36=
ENST00000432547.7:n.134T>A
ENST00000541025.2:n.134T>A
ENST00000610404.4:c.108T>A ENSP00000477599.1:p.Val36=
ENST00000613781.1:c.108T>A ENSP00000479174.1:p.Val36=
NM_000371.3:c.108T>A , LRG_416t1:c.108T>A NP_000362.1:p.Val36=
NM_000371.4:c.108T>A MANE Select NP_000362.1:p.Val36=