Canonical Allele Identifier: CA919958671

Gene: TTR

Linked Data

• dbSNP Id: rs1598844163

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592976dup , CM000680.2:g.31592976dup	GRCh38
NC_000018.9:g.29172939dup , CM000680.1:g.29172939dup	GRCh37
NC_000018.8:g.27426937dup	NCBI36
NG_009490.1:g.6210dup , LRG_416:g.6210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.150dup MANE Select	ENSP00000237014.4:p.His51AlafsTer8
ENST00000610404.5:c.54dup	ENSP00000477599.2:p.His19AlafsTer8
ENST00000649620.1:c.150dup	ENSP00000497927.1:p.His51AlafsTer8
ENST00000237014.7:c.150dup	ENSP00000237014.3:p.His51AlafsTer8
ENST00000432547.7:n.176dup
ENST00000541025.2:n.176dup
ENST00000610404.4:c.150dup	ENSP00000477599.1:p.His51AlafsTer8
ENST00000613781.1:c.150dup	ENSP00000479174.1:p.His51AlafsTer8
NM_000371.3:c.150dup , LRG_416t1:c.150dup	NP_000362.1:p.His51AlafsTer8
NM_000371.4:c.150dup MANE Select	NP_000362.1:p.His51AlafsTer8