Canonical Allele Identifier: CA503610891

Gene: TTR

Linked Data

• MyVariant Identifiers: chr18:g.29178575T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598612T>A , CM000680.2:g.31598612T>A	GRCh38
NC_000018.9:g.29178575T>A , CM000680.1:g.29178575T>A	GRCh37
NC_000018.8:g.27432573T>A	NCBI36
NG_009490.1:g.11846T>A , LRG_416:g.11846T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.381T>A MANE Select	ENSP00000237014.4:p.Ile127=
ENST00000610404.5:c.285T>A	ENSP00000477599.2:p.Ile95=
ENST00000649620.1:c.381T>A	ENSP00000497927.1:p.Ile127=
ENST00000237014.7:c.381T>A	ENSP00000237014.3:p.Ile127=
ENST00000610404.4:c.495T>A	ENSP00000477599.1:p.Ile165=
ENST00000613781.1:c.375+6T>A	ENSP00000479174.1:n.375+6T>A
NM_000371.3:c.381T>A , LRG_416t1:c.381T>A	NP_000362.1:p.Ile127=
NM_000371.4:c.381T>A MANE Select	NP_000362.1:p.Ile127=