Canonical Allele Identifier: CA297742056

Gene: TTR

Linked Data

• dbSNP Id: rs12226
• MyVariant Identifiers: chr18:g.29178659C>T (hg19) ; chr18:g.31598696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598696C>T , CM000680.2:g.31598696C>T	GRCh38
NC_000018.9:g.29178659C>T , CM000680.1:g.29178659C>T	GRCh37
NC_000018.8:g.27432657C>T	NCBI36
NG_009490.1:g.11930C>T , LRG_416:g.11930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.*21C>T MANE Select	ENSP00000237014.4:n.*21C>T
ENST00000610404.5:c.*21C>T	ENSP00000477599.2:n.*21C>T
ENST00000649620.1:c.*21C>T	ENSP00000497927.1:n.*21C>T
ENST00000237014.7:c.*21C>T	ENSP00000237014.3:n.*21C>T
ENST00000610404.4:c.*21C>T	ENSP00000477599.1:n.*21C>T
NM_000371.3:c.*21C>T , LRG_416t1:c.*21C>T	NP_000362.1:n.*21C>T
NM_000371.4:c.*21C>T MANE Select	NP_000362.1:n.*21C>T