Canonical Allele Identifier: CA402156428
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1757656
ClinVar RCV Id: RCV002370850 RCV003626745
dbSNP Id: rs1449262220
gnomAD v2: 18-29172860-G-A
gnomAD v4: 18-31592897-G-A
MyVariant Identifiers: chr18:g.29172860G>A (hg19) chr18:g.31592897G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592897G>A , CM000680.2:g.31592897G>A GRCh38
NC_000018.9:g.29172860G>A , CM000680.1:g.29172860G>A GRCh37
NC_000018.8:g.27426858G>A NCBI36
NG_009490.1:g.6131G>A , LRG_416:g.6131G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.71G>A MANE Select ENSP00000237014.4:p.Gly24Asp
ENST00000610404.5:c.-26G>A ENSP00000477599.2:n.-26G>A
ENST00000649620.1:c.71G>A ENSP00000497927.1:p.Gly24Asp
ENST00000237014.7:c.71G>A ENSP00000237014.3:p.Gly24Asp
ENST00000432547.7:n.97G>A
ENST00000541025.2:n.97G>A
ENST00000610404.4:c.71G>A ENSP00000477599.1:p.Gly24Asp
ENST00000613781.1:c.71G>A ENSP00000479174.1:p.Gly24Asp
NM_000371.3:c.71G>A , LRG_416t1:c.71G>A NP_000362.1:p.Gly24Asp
NM_000371.4:c.71G>A MANE Select NP_000362.1:p.Gly24Asp
Search 100 bp 5'
Search 100 bp 3'