Canonical Allele Identifier: CA629155253

Gene: TTR

Linked Data

• dbSNP Id: rs1324487413
• gnomAD v2: 18-29178506-T-G
• gnomAD v3: 18-31598543-T-G
• gnomAD v4: 18-31598543-T-G
• MyVariant Identifiers: chr18:g.29178506T>G (hg19) ; chr18:g.31598543T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598543T>G , CM000680.2:g.31598543T>G	GRCh38
NC_000018.9:g.29178506T>G , CM000680.1:g.29178506T>G	GRCh37
NC_000018.8:g.27432504T>G	NCBI36
NG_009490.1:g.11777T>G , LRG_416:g.11777T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.337-25T>G MANE Select	ENSP00000237014.4:n.337-25T>G
ENST00000610404.5:c.241-25T>G	ENSP00000477599.2:n.241-25T>G
ENST00000649620.1:c.337-25T>G	ENSP00000497927.1:n.337-25T>G
ENST00000237014.7:c.337-25T>G	ENSP00000237014.3:n.337-25T>G
ENST00000610404.4:c.451-25T>G	ENSP00000477599.1:n.451-25T>G
ENST00000613781.1:c.337-25T>G	ENSP00000479174.1:n.337-25T>G
NM_000371.3:c.337-25T>G , LRG_416t1:c.337-25T>G	NP_000362.1:n.337-25T>G
NM_000371.4:c.337-25T>G MANE Select	NP_000362.1:n.337-25T>G