Canonical Allele Identifier: CA297519
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 181693
dbSNP Id: rs11541790

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592956C>T , CM000680.2:g.31592956C>T GRCh38
NC_000018.9:g.29172919C>T , CM000680.1:g.29172919C>T GRCh37
NC_000018.8:g.27426917C>T NCBI36
NG_009490.1:g.6190C>T , LRG_416:g.6190C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.130C>T MANE Select ENSP00000237014.4:p.Pro44Ser
ENST00000610404.5:c.34C>T ENSP00000477599.2:p.Pro12Ser
ENST00000649620.1:c.130C>T ENSP00000497927.1:p.Pro44Ser
ENST00000237014.7:c.130C>T ENSP00000237014.3:p.Pro44Ser
ENST00000432547.7:n.156C>T
ENST00000541025.2:n.156C>T
ENST00000610404.4:c.130C>T ENSP00000477599.1:p.Pro44Ser
ENST00000613781.1:c.130C>T ENSP00000479174.1:p.Pro44Ser
NM_000371.3:c.130C>T , LRG_416t1:c.130C>T NP_000362.1:p.Pro44Ser
NM_000371.4:c.130C>T MANE Select NP_000362.1:p.Pro44Ser