Canonical Allele Identifier: CA402156791

Gene: TTR

Linked Data

• ClinVar Variation Id: 660385
• ClinVar RCV Id: RCV000817566
• dbSNP Id: rs1598844184
• MyVariant Identifiers: chr18:g.29172949A>G (hg19) ; chr18:g.31592986A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592986A>G , CM000680.2:g.31592986A>G	GRCh38
NC_000018.9:g.29172949A>G , CM000680.1:g.29172949A>G	GRCh37
NC_000018.8:g.27426947A>G	NCBI36
NG_009490.1:g.6220A>G , LRG_416:g.6220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.160A>G MANE Select	ENSP00000237014.4:p.Arg54Gly
ENST00000610404.5:c.64A>G	ENSP00000477599.2:p.Arg22Gly
ENST00000649620.1:c.160A>G	ENSP00000497927.1:p.Arg54Gly
ENST00000237014.7:c.160A>G	ENSP00000237014.3:p.Arg54Gly
ENST00000432547.7:n.186A>G
ENST00000541025.2:n.186A>G
ENST00000610404.4:c.160A>G	ENSP00000477599.1:p.Arg54Gly
ENST00000613781.1:c.160A>G	ENSP00000479174.1:p.Arg54Gly
NM_000371.3:c.160A>G , LRG_416t1:c.160A>G	NP_000362.1:p.Arg54Gly
NM_000371.4:c.160A>G MANE Select	NP_000362.1:p.Arg54Gly