Canonical Allele Identifier: CA402156823

Gene: TTR

Linked Data

• ClinVar Variation Id: 1003248
• ClinVar RCV Id: RCV001299780
• dbSNP Id: rs1294297409
• gnomAD v2: 18-29172959-C-A
• gnomAD v4: 18-31592996-C-A
• MyVariant Identifiers: chr18:g.29172959C>A (hg19) ; chr18:g.31592996C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592996C>A , CM000680.2:g.31592996C>A	GRCh38
NC_000018.9:g.29172959C>A , CM000680.1:g.29172959C>A	GRCh37
NC_000018.8:g.27426957C>A	NCBI36
NG_009490.1:g.6230C>A , LRG_416:g.6230C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.170C>A MANE Select	ENSP00000237014.4:p.Ala57Asp
ENST00000610404.5:c.74C>A	ENSP00000477599.2:p.Ala25Asp
ENST00000649620.1:c.170C>A	ENSP00000497927.1:p.Ala57Asp
ENST00000237014.7:c.170C>A	ENSP00000237014.3:p.Ala57Asp
ENST00000432547.7:n.196C>A
ENST00000541025.2:n.196C>A
ENST00000610404.4:c.170C>A	ENSP00000477599.1:p.Ala57Asp
ENST00000613781.1:c.170C>A	ENSP00000479174.1:p.Ala57Asp
NM_000371.3:c.170C>A , LRG_416t1:c.170C>A	NP_000362.1:p.Ala57Asp
NM_000371.4:c.170C>A MANE Select	NP_000362.1:p.Ala57Asp