Canonical Allele Identifier: CA402158108

Gene: TTR

Linked Data

• ClinVar Variation Id: 2473849
• ClinVar RCV Id: RCV003198043
• dbSNP Id: rs2073528096
• MyVariant Identifiers: chr18:g.29178531G>A (hg19) ; chr18:g.31598568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598568G>A , CM000680.2:g.31598568G>A	GRCh38
NC_000018.9:g.29178531G>A , CM000680.1:g.29178531G>A	GRCh37
NC_000018.8:g.27432529G>A	NCBI36
NG_009490.1:g.11802G>A , LRG_416:g.11802G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.337G>A MANE Select	ENSP00000237014.4:p.Val113Met
ENST00000610404.5:c.241G>A	ENSP00000477599.2:p.Val81Met
ENST00000649620.1:c.337G>A	ENSP00000497927.1:p.Val113Met
ENST00000237014.7:c.337G>A	ENSP00000237014.3:p.Val113Met
ENST00000610404.4:c.451G>A	ENSP00000477599.1:p.Val151Met
ENST00000613781.1:c.337G>A	ENSP00000479174.1:p.Val113Met
NM_000371.3:c.337G>A , LRG_416t1:c.337G>A	NP_000362.1:p.Val113Met
NM_000371.4:c.337G>A MANE Select	NP_000362.1:p.Val113Met