Canonical Allele Identifier: CA402156612

Gene: TTR

Linked Data

• ClinVar Variation Id: 1359774
• ClinVar RCV Id: RCV001904544 ; RCV003299056
• dbSNP Id: rs779619795
• MyVariant Identifiers: chr18:g.29172903T>A (hg19) ; chr18:g.31592940T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592940T>A , CM000680.2:g.31592940T>A	GRCh38
NC_000018.9:g.29172903T>A , CM000680.1:g.29172903T>A	GRCh37
NC_000018.8:g.27426901T>A	NCBI36
NG_009490.1:g.6174T>A , LRG_416:g.6174T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.114T>A MANE Select	ENSP00000237014.4:p.Asp38Glu
ENST00000610404.5:c.18T>A	ENSP00000477599.2:p.Asp6Glu
ENST00000649620.1:c.114T>A	ENSP00000497927.1:p.Asp38Glu
ENST00000237014.7:c.114T>A	ENSP00000237014.3:p.Asp38Glu
ENST00000432547.7:n.140T>A
ENST00000541025.2:n.140T>A
ENST00000610404.4:c.114T>A	ENSP00000477599.1:p.Asp38Glu
ENST00000613781.1:c.114T>A	ENSP00000479174.1:p.Asp38Glu
NM_000371.3:c.114T>A , LRG_416t1:c.114T>A	NP_000362.1:p.Asp38Glu
NM_000371.4:c.114T>A MANE Select	NP_000362.1:p.Asp38Glu