Canonical Allele Identifier: CA256825

Gene: TTR

Linked Data

• ClinVar Variation Id: 13440
• ClinVar RCV Id: RCV000014382 ; RCV001173291 ; RCV002390107
• dbSNP Id: rs28933979
• MyVariant Identifiers: chr18:g.29172937G>C (hg19) ; chr18:g.31592974G>C (hg38)
• PubMed: PMID:1520326 ; PMID:9843084

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