Canonical Allele Identifier: CA297736998

Gene: TTR

Linked Data

• ClinVar Variation Id: 850453
• ClinVar RCV Id: RCV001054625 ; RCV001288932 ; RCV002409453
• dbSNP Id: rs121918078
• MyVariant Identifiers: chr18:g.29172982G>A (hg19) ; chr18:g.31593019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593019G>A , CM000680.2:g.31593019G>A	GRCh38
NC_000018.9:g.29172982G>A , CM000680.1:g.29172982G>A	GRCh37
NC_000018.8:g.27426980G>A	NCBI36
NG_009490.1:g.6253G>A , LRG_416:g.6253G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.193G>A MANE Select	ENSP00000237014.4:p.Ala65Thr
ENST00000610404.5:c.97G>A	ENSP00000477599.2:p.Ala33Thr
ENST00000649620.1:c.193G>A	ENSP00000497927.1:p.Ala65Thr
ENST00000237014.7:c.193G>A	ENSP00000237014.3:p.Ala65Thr
ENST00000432547.7:n.219G>A
ENST00000541025.2:n.219G>A
ENST00000610404.4:c.193G>A	ENSP00000477599.1:p.Ala65Thr
ENST00000613781.1:c.193G>A	ENSP00000479174.1:p.Ala65Thr
NM_000371.3:c.193G>A , LRG_416t1:c.193G>A	NP_000362.1:p.Ala65Thr
NM_000371.4:c.193G>A MANE Select	NP_000362.1:p.Ala65Thr