Canonical Allele Identifier: CA132602

Gene: TTR

Linked Data

• ClinVar Variation Id: 43455
• ClinVar RCV Id: RCV000036377 ; RCV000248562 ; RCV000587633 ; RCV001081376 ; RCV001170611 ; RCV001173304
• dbSNP Id: rs2276382
• ExAC: 18:29178611 G / A
• gnomAD v2: 18-29178611-G-A
• gnomAD v3: 18-31598648-G-A
• gnomAD v4: 18-31598648-G-A
• COSMIC: COSM148420
• MyVariant Identifiers: chr18:g.29178611G>A (hg19) ; chr18:g.31598648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598648G>A , CM000680.2:g.31598648G>A	GRCh38
NC_000018.9:g.29178611G>A , CM000680.1:g.29178611G>A	GRCh37
NC_000018.8:g.27432609G>A	NCBI36
NG_009490.1:g.11882G>A , LRG_416:g.11882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.417G>A MANE Select	ENSP00000237014.4:p.Thr139=
ENST00000610404.5:c.321G>A	ENSP00000477599.2:p.Thr107=
ENST00000649620.1:c.417G>A	ENSP00000497927.1:p.Thr139=
ENST00000237014.7:c.417G>A	ENSP00000237014.3:p.Thr139=
ENST00000610404.4:c.531G>A	ENSP00000477599.1:p.Thr177=
ENST00000613781.1:c.393G>A	ENSP00000479174.1:p.Thr131=
NM_000371.3:c.417G>A , LRG_416t1:c.417G>A	NP_000362.1:p.Thr139=
NM_000371.4:c.417G>A MANE Select	NP_000362.1:p.Thr139=