Canonical Allele Identifier: CA256845

Gene: TTR

Linked Data

• ClinVar Variation Id: 13451
• ClinVar RCV Id: RCV000014393 ; RCV000516227 ; RCV002415416
• dbSNP Id: rs121918090
• MyVariant Identifiers: chr18:g.29172989G>C (hg19) ; chr18:g.31593026G>C (hg38)
• PubMed: PMID:7951260 ; PMID:10845569 ; PMID:12440483 ; PMID:12557758 ; PMID:15123043 ; PMID:17503405 ; PMID:19752327 ; PMID:21550574 ; PMID:22745357 ; PMID:24053266 ; PMID:24101373 ; PMID:27584576

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593026G>C , CM000680.2:g.31593026G>C	GRCh38
NC_000018.9:g.29172989G>C , CM000680.1:g.29172989G>C	GRCh37
NC_000018.8:g.27426987G>C	NCBI36
NG_009490.1:g.6260G>C , LRG_416:g.6260G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.200G>C MANE Select	ENSP00000237014.4:p.Gly67Ala
ENST00000610404.5:c.104G>C	ENSP00000477599.2:p.Gly35Ala
ENST00000649620.1:c.200G>C	ENSP00000497927.1:p.Gly67Ala
ENST00000237014.7:c.200G>C	ENSP00000237014.3:p.Gly67Ala
ENST00000432547.7:n.226G>C
ENST00000541025.2:n.226G>C
ENST00000610404.4:c.200G>C	ENSP00000477599.1:p.Gly67Ala
ENST00000613781.1:c.200G>C	ENSP00000479174.1:p.Gly67Ala
NM_000371.3:c.200G>C , LRG_416t1:c.200G>C	NP_000362.1:p.Gly67Ala
NM_000371.4:c.200G>C MANE Select	NP_000362.1:p.Gly67Ala