Canonical Allele Identifier: CA503610187

Gene: TTR

Linked Data

• ClinVar Variation Id: 2763618
• ClinVar RCV Id: RCV003515849
• MyVariant Identifiers: chr18:g.29172987T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593024T>G , CM000680.2:g.31593024T>G	GRCh38
NC_000018.9:g.29172987T>G , CM000680.1:g.29172987T>G	GRCh37
NC_000018.8:g.27426985T>G	NCBI36
NG_009490.1:g.6258T>G , LRG_416:g.6258T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.198T>G MANE Select	ENSP00000237014.4:p.Ser66=
ENST00000610404.5:c.102T>G	ENSP00000477599.2:p.Ser34=
ENST00000649620.1:c.198T>G	ENSP00000497927.1:p.Ser66=
ENST00000237014.7:c.198T>G	ENSP00000237014.3:p.Ser66=
ENST00000432547.7:n.224T>G
ENST00000541025.2:n.224T>G
ENST00000610404.4:c.198T>G	ENSP00000477599.1:p.Ser66=
ENST00000613781.1:c.198T>G	ENSP00000479174.1:p.Ser66=
NM_000371.3:c.198T>G , LRG_416t1:c.198T>G	NP_000362.1:p.Ser66=
NM_000371.4:c.198T>G MANE Select	NP_000362.1:p.Ser66=