Canonical Allele Identifier: CA2573155228

Gene: TTR

Linked Data

• ClinVar Variation Id: 1591998
• ClinVar RCV Id: RCV002096477
• dbSNP Id: rs548935944

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592877G>T , CM000680.2:g.31592877G>T	GRCh38
NC_000018.9:g.29172840G>T , CM000680.1:g.29172840G>T	GRCh37
NC_000018.8:g.27426838G>T	NCBI36
NG_009490.1:g.6111G>T , LRG_416:g.6111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.70-19G>T MANE Select	ENSP00000237014.4:n.70-19G>T
ENST00000610404.5:c.-27-19G>T	ENSP00000477599.2:n.-27-19G>T
ENST00000649620.1:c.70-19G>T	ENSP00000497927.1:n.70-19G>T
ENST00000237014.7:c.70-19G>T	ENSP00000237014.3:n.70-19G>T
ENST00000432547.7:n.96-19G>T
ENST00000541025.2:n.96-19G>T
ENST00000610404.4:c.70-19G>T	ENSP00000477599.1:n.70-19G>T
ENST00000613781.1:c.70-19G>T	ENSP00000479174.1:n.70-19G>T
NM_000371.3:c.70-19G>T , LRG_416t1:c.70-19G>T	NP_000362.1:n.70-19G>T
NM_000371.4:c.70-19G>T MANE Select	NP_000362.1:n.70-19G>T