Canonical Allele Identifier: CA629154419

Gene: TTR

Linked Data

• dbSNP Id: rs1428870808
• gnomAD v2: 18-29173016-G-A
• gnomAD v4: 18-31593053-G-A
• MyVariant Identifiers: chr18:g.29173016G>A (hg19) ; chr18:g.31593053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593053G>A , CM000680.2:g.31593053G>A	GRCh38
NC_000018.9:g.29173016G>A , CM000680.1:g.29173016G>A	GRCh37
NC_000018.8:g.27427014G>A	NCBI36
NG_009490.1:g.6287G>A , LRG_416:g.6287G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.200+27G>A MANE Select	ENSP00000237014.4:n.200+27G>A
ENST00000610404.5:c.104+27G>A	ENSP00000477599.2:n.104+27G>A
ENST00000649620.1:c.200+27G>A	ENSP00000497927.1:n.200+27G>A
ENST00000237014.7:c.200+27G>A	ENSP00000237014.3:n.200+27G>A
ENST00000432547.7:n.253G>A
ENST00000541025.2:n.226+27G>A
ENST00000610404.4:c.200+27G>A	ENSP00000477599.1:n.200+27G>A
ENST00000613781.1:c.200+27G>A	ENSP00000479174.1:n.200+27G>A
NM_000371.3:c.200+27G>A , LRG_416t1:c.200+27G>A	NP_000362.1:n.200+27G>A
NM_000371.4:c.200+27G>A MANE Select	NP_000362.1:n.200+27G>A