Canonical Allele Identifier: CA629154878

Gene: TTR

Linked Data

• dbSNP Id: rs1170991505
• gnomAD v2: 18-29175340-A-C
• gnomAD v4: 18-31595377-A-C
• MyVariant Identifiers: chr18:g.29175340A>C (hg19) ; chr18:g.31595377A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595377A>C , CM000680.2:g.31595377A>C	GRCh38
NC_000018.9:g.29175340A>C , CM000680.1:g.29175340A>C	GRCh37
NC_000018.8:g.27429338A>C	NCBI36
NG_009490.1:g.8611A>C , LRG_416:g.8611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.336+122A>C MANE Select	ENSP00000237014.4:n.336+122A>C
ENST00000610404.5:c.240+122A>C	ENSP00000477599.2:n.240+122A>C
ENST00000649620.1:c.336+122A>C	ENSP00000497927.1:n.336+122A>C
ENST00000237014.7:c.336+122A>C	ENSP00000237014.3:n.336+122A>C
ENST00000541025.2:n.484A>C
ENST00000610404.4:c.357+101A>C	ENSP00000477599.1:n.357+101A>C
ENST00000613781.1:c.336+122A>C	ENSP00000479174.1:n.336+122A>C
NM_000371.3:c.336+122A>C , LRG_416t1:c.336+122A>C	NP_000362.1:n.336+122A>C
NM_000371.4:c.336+122A>C MANE Select	NP_000362.1:n.336+122A>C