Canonical Allele Identifier: CA402156820

Gene: TTR

Linked Data

• ClinVar Variation Id: 538165
• ClinVar RCV Id: RCV000647354
• dbSNP Id: rs1380447419
• gnomAD v2: 18-29172958-G-A
• gnomAD v4: 18-31592995-G-A
• MyVariant Identifiers: chr18:g.29172958G>A (hg19) ; chr18:g.31592995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592995G>A , CM000680.2:g.31592995G>A	GRCh38
NC_000018.9:g.29172958G>A , CM000680.1:g.29172958G>A	GRCh37
NC_000018.8:g.27426956G>A	NCBI36
NG_009490.1:g.6229G>A , LRG_416:g.6229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.169G>A MANE Select	ENSP00000237014.4:p.Ala57Thr
ENST00000610404.5:c.73G>A	ENSP00000477599.2:p.Ala25Thr
ENST00000649620.1:c.169G>A	ENSP00000497927.1:p.Ala57Thr
ENST00000237014.7:c.169G>A	ENSP00000237014.3:p.Ala57Thr
ENST00000432547.7:n.195G>A
ENST00000541025.2:n.195G>A
ENST00000610404.4:c.169G>A	ENSP00000477599.1:p.Ala57Thr
ENST00000613781.1:c.169G>A	ENSP00000479174.1:p.Ala57Thr
NM_000371.3:c.169G>A , LRG_416t1:c.169G>A	NP_000362.1:p.Ala57Thr
NM_000371.4:c.169G>A MANE Select	NP_000362.1:p.Ala57Thr