Canonical Allele Identifier: CA402158218

Gene: TTR

Linked Data

• MyVariant Identifiers: chr18:g.29178586T>G (hg19) ; chr18:g.31598623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598623T>G , CM000680.2:g.31598623T>G	GRCh38
NC_000018.9:g.29178586T>G , CM000680.1:g.29178586T>G	GRCh37
NC_000018.8:g.27432584T>G	NCBI36
NG_009490.1:g.11857T>G , LRG_416:g.11857T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.392T>G MANE Select	ENSP00000237014.4:p.Leu131Arg
ENST00000610404.5:c.296T>G	ENSP00000477599.2:p.Leu99Arg
ENST00000649620.1:c.392T>G	ENSP00000497927.1:p.Leu131Arg
ENST00000237014.7:c.392T>G	ENSP00000237014.3:p.Leu131Arg
ENST00000610404.4:c.506T>G	ENSP00000477599.1:p.Leu169Arg
ENST00000613781.1:c.376-8T>G	ENSP00000479174.1:n.376-8T>G
NM_000371.3:c.392T>G , LRG_416t1:c.392T>G	NP_000362.1:p.Leu131Arg
NM_000371.4:c.392T>G MANE Select	NP_000362.1:p.Leu131Arg