Canonical Allele Identifier: CA402156526

Gene: TTR

Linked Data

• ClinVar Variation Id: 1075407
• ClinVar RCV Id: RCV001389002 ; RCV002377579 ; RCV003447595
• dbSNP Id: rs2144406525
• MyVariant Identifiers: chr18:g.29172883C>G (hg19) ; chr18:g.31592920C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592920C>G , CM000680.2:g.31592920C>G	GRCh38
NC_000018.9:g.29172883C>G , CM000680.1:g.29172883C>G	GRCh37
NC_000018.8:g.27426881C>G	NCBI36
NG_009490.1:g.6154C>G , LRG_416:g.6154C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.94C>G MANE Select	ENSP00000237014.4:p.Leu32Val
ENST00000610404.5:c.-3C>G	ENSP00000477599.2:n.-3C>G
ENST00000649620.1:c.94C>G	ENSP00000497927.1:p.Leu32Val
ENST00000237014.7:c.94C>G	ENSP00000237014.3:p.Leu32Val
ENST00000432547.7:n.120C>G
ENST00000541025.2:n.120C>G
ENST00000610404.4:c.94C>G	ENSP00000477599.1:p.Leu32Val
ENST00000613781.1:c.94C>G	ENSP00000479174.1:p.Leu32Val
NM_000371.3:c.94C>G , LRG_416t1:c.94C>G	NP_000362.1:p.Leu32Val
NM_000371.4:c.94C>G MANE Select	NP_000362.1:p.Leu32Val