Canonical Allele Identifier: CA297742115

Gene: TTR

Linked Data

• dbSNP Id: rs543652861
• gnomAD v4: 18-31598753-C-T
• MyVariant Identifiers: chr18:g.29178716C>T (hg19) ; chr18:g.31598753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598753C>T , CM000680.2:g.31598753C>T	GRCh38
NC_000018.9:g.29178716C>T , CM000680.1:g.29178716C>T	GRCh37
NC_000018.8:g.27432714C>T	NCBI36
NG_009490.1:g.11987C>T , LRG_416:g.11987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.*78C>T MANE Select	ENSP00000237014.4:n.*78C>T
ENST00000610404.5:c.*78C>T	ENSP00000477599.2:n.*78C>T
ENST00000649620.1:c.*78C>T	ENSP00000497927.1:n.*78C>T
ENST00000237014.7:c.*78C>T	ENSP00000237014.3:n.*78C>T
ENST00000610404.4:c.*78C>T	ENSP00000477599.1:n.*78C>T
NM_000371.3:c.*78C>T , LRG_416t1:c.*78C>T	NP_000362.1:n.*78C>T
NM_000371.4:c.*78C>T MANE Select	NP_000362.1:n.*78C>T