Canonical Allele Identifier: CA10604660

Gene: TTR

Linked Data

• ClinVar Variation Id: 284011
• ClinVar RCV Id: RCV000381645 ; RCV001213836
• dbSNP Id: rs144792001
• gnomAD v4: 18-31591915-C-G
• MyVariant Identifiers: chr18:g.29171878C>G (hg19) ; chr18:g.31591915C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31591915C>G , CM000680.2:g.31591915C>G	GRCh38
NC_000018.9:g.29171878C>G , CM000680.1:g.29171878C>G	GRCh37
NC_000018.8:g.27425876C>G	NCBI36
NG_009490.1:g.5149C>G , LRG_416:g.5149C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.13C>G MANE Select	ENSP00000237014.4:p.Arg5Gly
ENST00000610404.5:c.-27-981C>G	ENSP00000477599.2:n.-27-981C>G
ENST00000613781.2:c.13C>G	ENSP00000479174.2:p.Arg5Gly
ENST00000649620.1:c.13C>G	ENSP00000497927.1:p.Arg5Gly
ENST00000676075.1:c.13C>G	ENSP00000502027.1:p.Arg5Gly
ENST00000237014.7:c.13C>G	ENSP00000237014.3:p.Arg5Gly
ENST00000432547.7:n.39C>G
ENST00000541025.2:n.39C>G
ENST00000610404.4:c.13C>G	ENSP00000477599.1:p.Arg5Gly
ENST00000613781.1:c.13C>G	ENSP00000479174.1:p.Arg5Gly
NM_000371.3:c.13C>G , LRG_416t1:c.13C>G	NP_000362.1:p.Arg5Gly
NM_000371.4:c.13C>G MANE Select	NP_000362.1:p.Arg5Gly