Canonical Allele Identifier: CA402157183

Gene: TTR

Linked Data

• MyVariant Identifiers: chr18:g.29175225A>T (hg19) ; chr18:g.31595262A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595262A>T , CM000680.2:g.31595262A>T	GRCh38
NC_000018.9:g.29175225A>T , CM000680.1:g.29175225A>T	GRCh37
NC_000018.8:g.27429223A>T	NCBI36
NG_009490.1:g.8496A>T , LRG_416:g.8496A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.336+7A>T MANE Select	ENSP00000237014.4:n.336+7A>T
ENST00000610404.5:c.240+7A>T	ENSP00000477599.2:n.240+7A>T
ENST00000649620.1:c.336+7A>T	ENSP00000497927.1:n.336+7A>T
ENST00000237014.7:c.336+7A>T	ENSP00000237014.3:n.336+7A>T
ENST00000541025.2:n.369A>T
ENST00000610404.4:c.343A>T	ENSP00000477599.1:p.Ile115Leu
ENST00000613781.1:c.336+7A>T	ENSP00000479174.1:n.336+7A>T
NM_000371.3:c.336+7A>T , LRG_416t1:c.336+7A>T	NP_000362.1:n.336+7A>T
NM_000371.4:c.336+7A>T MANE Select	NP_000362.1:n.336+7A>T