Canonical Allele Identifier: CA2573155230

Gene: TTR

Linked Data

• ClinVar Variation Id: 1652843
• ClinVar RCV Id: RCV002173883
• dbSNP Id: rs2144406929

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593040G>T , CM000680.2:g.31593040G>T	GRCh38
NC_000018.9:g.29173003G>T , CM000680.1:g.29173003G>T	GRCh37
NC_000018.8:g.27427001G>T	NCBI36
NG_009490.1:g.6274G>T , LRG_416:g.6274G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.200+14G>T MANE Select	ENSP00000237014.4:n.200+14G>T
ENST00000610404.5:c.104+14G>T	ENSP00000477599.2:n.104+14G>T
ENST00000649620.1:c.200+14G>T	ENSP00000497927.1:n.200+14G>T
ENST00000237014.7:c.200+14G>T	ENSP00000237014.3:n.200+14G>T
ENST00000432547.7:n.240G>T
ENST00000541025.2:n.226+14G>T
ENST00000610404.4:c.200+14G>T	ENSP00000477599.1:n.200+14G>T
ENST00000613781.1:c.200+14G>T	ENSP00000479174.1:n.200+14G>T
NM_000371.3:c.200+14G>T , LRG_416t1:c.200+14G>T	NP_000362.1:n.200+14G>T
NM_000371.4:c.200+14G>T MANE Select	NP_000362.1:n.200+14G>T