Canonical Allele Identifier: CA503610116
Gene: TTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29172951A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592988A>G , CM000680.2:g.31592988A>G GRCh38
NC_000018.9:g.29172951A>G , CM000680.1:g.29172951A>G GRCh37
NC_000018.8:g.27426949A>G NCBI36
NG_009490.1:g.6222A>G , LRG_416:g.6222A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.162A>G MANE Select ENSP00000237014.4:p.Arg54=
ENST00000610404.5:c.66A>G ENSP00000477599.2:p.Arg22=
ENST00000649620.1:c.162A>G ENSP00000497927.1:p.Arg54=
ENST00000237014.7:c.162A>G ENSP00000237014.3:p.Arg54=
ENST00000432547.7:n.188A>G
ENST00000541025.2:n.188A>G
ENST00000610404.4:c.162A>G ENSP00000477599.1:p.Arg54=
ENST00000613781.1:c.162A>G ENSP00000479174.1:p.Arg54=
NM_000371.3:c.162A>G , LRG_416t1:c.162A>G NP_000362.1:p.Arg54=
NM_000371.4:c.162A>G MANE Select NP_000362.1:p.Arg54=