Canonical Allele Identifier: CA503610170

Gene: TTR

Linked Data

• ClinVar Variation Id: 2012402
• ClinVar RCV Id: RCV002843089
• MyVariant Identifiers: chr18:g.29172963T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593000T>C , CM000680.2:g.31593000T>C	GRCh38
NC_000018.9:g.29172963T>C , CM000680.1:g.29172963T>C	GRCh37
NC_000018.8:g.27426961T>C	NCBI36
NG_009490.1:g.6234T>C , LRG_416:g.6234T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.174T>C MANE Select	ENSP00000237014.4:p.Asp58=
ENST00000610404.5:c.78T>C	ENSP00000477599.2:p.Asp26=
ENST00000649620.1:c.174T>C	ENSP00000497927.1:p.Asp58=
ENST00000237014.7:c.174T>C	ENSP00000237014.3:p.Asp58=
ENST00000432547.7:n.200T>C
ENST00000541025.2:n.200T>C
ENST00000610404.4:c.174T>C	ENSP00000477599.1:p.Asp58=
ENST00000613781.1:c.174T>C	ENSP00000479174.1:p.Asp58=
NM_000371.3:c.174T>C , LRG_416t1:c.174T>C	NP_000362.1:p.Asp58=
NM_000371.4:c.174T>C MANE Select	NP_000362.1:p.Asp58=