Canonical Allele Identifier: CA402158199

Gene: TTR

Linked Data

• ClinVar Variation Id: 1073325
• ClinVar RCV Id: RCV001386306 ; RCV002357290
• dbSNP Id: rs751430411
• MyVariant Identifiers: chr18:g.29178575T>G (hg19) ; chr18:g.31598612T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.381T>G MANE Select	ENSP00000237014.4:p.Ile127Met
ENST00000610404.5:c.285T>G	ENSP00000477599.2:p.Ile95Met
ENST00000649620.1:c.381T>G	ENSP00000497927.1:p.Ile127Met
ENST00000237014.7:c.381T>G	ENSP00000237014.3:p.Ile127Met
ENST00000610404.4:c.495T>G	ENSP00000477599.1:p.Ile165Met
ENST00000613781.1:c.375+6T>G	ENSP00000479174.1:n.375+6T>G
NM_000371.3:c.381T>G , LRG_416t1:c.381T>G	NP_000362.1:p.Ile127Met
NM_000371.4:c.381T>G MANE Select	NP_000362.1:p.Ile127Met