Canonical Allele Identifier: CA235185

Gene: TTR

Linked Data

• ClinVar Variation Id: 36891
• ClinVar RCV Id: RCV000030573 ; RCV000244982 ; RCV000723872 ; RCV001173305 ; RCV002321492 ; RCV004549394
• dbSNP Id: rs75517067
• ExAC: 18:29175237 G / A
• gnomAD v2: 18-29175237-G-A
• gnomAD v3: 18-31595274-G-A
• gnomAD v4: 18-31595274-G-A
• MyVariant Identifiers: chr18:g.29175237G>A (hg19) ; chr18:g.31595274G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595274G>A , CM000680.2:g.31595274G>A	GRCh38
NC_000018.9:g.29175237G>A , CM000680.1:g.29175237G>A	GRCh37
NC_000018.8:g.27429235G>A	NCBI36
NG_009490.1:g.8508G>A , LRG_416:g.8508G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.336+19G>A MANE Select	ENSP00000237014.4:n.336+19G>A
ENST00000610404.5:c.240+19G>A	ENSP00000477599.2:n.240+19G>A
ENST00000649620.1:c.336+19G>A	ENSP00000497927.1:n.336+19G>A
ENST00000237014.7:c.336+19G>A	ENSP00000237014.3:n.336+19G>A
ENST00000541025.2:n.381G>A
ENST00000610404.4:c.355G>A	ENSP00000477599.1:p.Glu119Lys
ENST00000613781.1:c.336+19G>A	ENSP00000479174.1:n.336+19G>A
NM_000371.3:c.336+19G>A , LRG_416t1:c.336+19G>A	NP_000362.1:n.336+19G>A
NM_000371.4:c.336+19G>A MANE Select	NP_000362.1:n.336+19G>A