Canonical Allele Identifier: CA256806

Gene: TTR

Linked Data

• ClinVar Variation Id: 13428
• ClinVar RCV Id: RCV000014370
• dbSNP Id: rs11541796
• MyVariant Identifiers: chr18:g.29172974A>G (hg19) ; chr18:g.31593011A>G (hg38)
• PubMed: PMID:1353861 ; PMID:2363717

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593011A>G , CM000680.2:g.31593011A>G	GRCh38
NC_000018.9:g.29172974A>G , CM000680.1:g.29172974A>G	GRCh37
NC_000018.8:g.27426972A>G	NCBI36
NG_009490.1:g.6245A>G , LRG_416:g.6245A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.185A>G MANE Select	ENSP00000237014.4:p.Glu62Gly
ENST00000610404.5:c.89A>G	ENSP00000477599.2:p.Glu30Gly
ENST00000649620.1:c.185A>G	ENSP00000497927.1:p.Glu62Gly
ENST00000237014.7:c.185A>G	ENSP00000237014.3:p.Glu62Gly
ENST00000432547.7:n.211A>G
ENST00000541025.2:n.211A>G
ENST00000610404.4:c.185A>G	ENSP00000477599.1:p.Glu62Gly
ENST00000613781.1:c.185A>G	ENSP00000479174.1:p.Glu62Gly
NM_000371.3:c.185A>G , LRG_416t1:c.185A>G	NP_000362.1:p.Glu62Gly
NM_000371.4:c.185A>G MANE Select	NP_000362.1:p.Glu62Gly