Canonical Allele Identifier: CA402156501

Gene: TTR

Linked Data

• ClinVar Variation Id: 1765057
• ClinVar RCV Id: RCV002376066 ; RCV003988003
• gnomAD v4: 18-31592914-T-G
• MyVariant Identifiers: chr18:g.29172877T>G (hg19) ; chr18:g.31592914T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592914T>G , CM000680.2:g.31592914T>G	GRCh38
NC_000018.9:g.29172877T>G , CM000680.1:g.29172877T>G	GRCh37
NC_000018.8:g.27426875T>G	NCBI36
NG_009490.1:g.6148T>G , LRG_416:g.6148T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.88T>G MANE Select	ENSP00000237014.4:p.Cys30Gly
ENST00000610404.5:c.-9T>G	ENSP00000477599.2:n.-9T>G
ENST00000649620.1:c.88T>G	ENSP00000497927.1:p.Cys30Gly
ENST00000237014.7:c.88T>G	ENSP00000237014.3:p.Cys30Gly
ENST00000432547.7:n.114T>G
ENST00000541025.2:n.114T>G
ENST00000610404.4:c.88T>G	ENSP00000477599.1:p.Cys30Gly
ENST00000613781.1:c.88T>G	ENSP00000479174.1:p.Cys30Gly
NM_000371.3:c.88T>G , LRG_416t1:c.88T>G	NP_000362.1:p.Cys30Gly
NM_000371.4:c.88T>G MANE Select	NP_000362.1:p.Cys30Gly