Canonical Allele Identifier: CA179467

Gene: TTR

Linked Data

• ClinVar Variation Id: 13458
• ClinVar RCV Id: RCV000014400 ; RCV000152543 ; RCV000621591 ; RCV000586735 ; RCV001173296 ; RCV001170383
• dbSNP Id: rs121918095
• ExAC: 18:29178565 G / A
• gnomAD v2: 18-29178565-G-A
• gnomAD v3: 18-31598602-G-A
• gnomAD v4: 18-31598602-G-A
• MyVariant Identifiers: chr18:g.29178565G>A (hg19) ; chr18:g.31598602G>A (hg38)
• PubMed: PMID:10529370 ; PMID:10772944 ; PMID:12440486 ; PMID:14640030 ; PMID:15820680 ; PMID:16911959 ; PMID:17431395 ; PMID:24101373 ; PMID:25311081

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598602G>A , CM000680.2:g.31598602G>A	GRCh38
NC_000018.9:g.29178565G>A , CM000680.1:g.29178565G>A	GRCh37
NC_000018.8:g.27432563G>A	NCBI36
NG_009490.1:g.11836G>A , LRG_416:g.11836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.371G>A MANE Select	ENSP00000237014.4:p.Arg124His
ENST00000610404.5:c.275G>A	ENSP00000477599.2:p.Arg92His
ENST00000649620.1:c.371G>A	ENSP00000497927.1:p.Arg124His
ENST00000237014.7:c.371G>A	ENSP00000237014.3:p.Arg124His
ENST00000610404.4:c.485G>A	ENSP00000477599.1:p.Arg162His
ENST00000613781.1:c.371G>A	ENSP00000479174.1:p.Arg124His
NM_000371.3:c.371G>A , LRG_416t1:c.371G>A	NP_000362.1:p.Arg124His
NM_000371.4:c.371G>A MANE Select	NP_000362.1:p.Arg124His