Canonical Allele Identifier: CA256825
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 13440
dbSNP Id: rs28933979

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592974G>C , CM000680.2:g.31592974G>C GRCh38
NC_000018.9:g.29172937G>C , CM000680.1:g.29172937G>C GRCh37
NC_000018.8:g.27426935G>C NCBI36
NG_009490.1:g.6208G>C , LRG_416:g.6208G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.148G>C MANE Select ENSP00000237014.4:p.Val50Leu
ENST00000610404.5:c.52G>C ENSP00000477599.2:p.Val18Leu
ENST00000649620.1:c.148G>C ENSP00000497927.1:p.Val50Leu
ENST00000237014.7:c.148G>C ENSP00000237014.3:p.Val50Leu
ENST00000432547.7:n.174G>C
ENST00000541025.2:n.174G>C
ENST00000610404.4:c.148G>C ENSP00000477599.1:p.Val50Leu
ENST00000613781.1:c.148G>C ENSP00000479174.1:p.Val50Leu
NM_000371.3:c.148G>C , LRG_416t1:c.148G>C NP_000362.1:p.Val50Leu
NM_000371.4:c.148G>C MANE Select NP_000362.1:p.Val50Leu