Canonical Allele Identifier: CA503610108

Gene: TTR

Linked Data

• ClinVar Variation Id: 2812512
• ClinVar RCV Id: RCV003627840
• gnomAD v4: 18-31592986-A-C
• MyVariant Identifiers: chr18:g.29172949A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592986A>C , CM000680.2:g.31592986A>C	GRCh38
NC_000018.9:g.29172949A>C , CM000680.1:g.29172949A>C	GRCh37
NC_000018.8:g.27426947A>C	NCBI36
NG_009490.1:g.6220A>C , LRG_416:g.6220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.160A>C MANE Select	ENSP00000237014.4:p.Arg54=
ENST00000610404.5:c.64A>C	ENSP00000477599.2:p.Arg22=
ENST00000649620.1:c.160A>C	ENSP00000497927.1:p.Arg54=
ENST00000237014.7:c.160A>C	ENSP00000237014.3:p.Arg54=
ENST00000432547.7:n.186A>C
ENST00000541025.2:n.186A>C
ENST00000610404.4:c.160A>C	ENSP00000477599.1:p.Arg54=
ENST00000613781.1:c.160A>C	ENSP00000479174.1:p.Arg54=
NM_000371.3:c.160A>C , LRG_416t1:c.160A>C	NP_000362.1:p.Arg54=
NM_000371.4:c.160A>C MANE Select	NP_000362.1:p.Arg54=