Canonical Allele Identifier: CA297736966

Gene: TTR

Linked Data

• ClinVar Variation Id: 1780335
• ClinVar RCV Id: RCV002407850
• dbSNP Id: rs113625622
• MyVariant Identifiers: chr18:g.29172968C>T (hg19) ; chr18:g.31593005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593005C>T , CM000680.2:g.31593005C>T	GRCh38
NC_000018.9:g.29172968C>T , CM000680.1:g.29172968C>T	GRCh37
NC_000018.8:g.27426966C>T	NCBI36
NG_009490.1:g.6239C>T , LRG_416:g.6239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.179C>T MANE Select	ENSP00000237014.4:p.Thr60Ile
ENST00000610404.5:c.83C>T	ENSP00000477599.2:p.Thr28Ile
ENST00000649620.1:c.179C>T	ENSP00000497927.1:p.Thr60Ile
ENST00000237014.7:c.179C>T	ENSP00000237014.3:p.Thr60Ile
ENST00000432547.7:n.205C>T
ENST00000541025.2:n.205C>T
ENST00000610404.4:c.179C>T	ENSP00000477599.1:p.Thr60Ile
ENST00000613781.1:c.179C>T	ENSP00000479174.1:p.Thr60Ile
NM_000371.3:c.179C>T , LRG_416t1:c.179C>T	NP_000362.1:p.Thr60Ile
NM_000371.4:c.179C>T MANE Select	NP_000362.1:p.Thr60Ile