Canonical Allele Identifier: CA402158315

Gene: TTR

Linked Data

• MyVariant Identifiers: chr18:g.29178636T>C (hg19) ; chr18:g.31598673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598673T>C , CM000680.2:g.31598673T>C	GRCh38
NC_000018.9:g.29178636T>C , CM000680.1:g.29178636T>C	GRCh37
NC_000018.8:g.27432634T>C	NCBI36
NG_009490.1:g.11907T>C , LRG_416:g.11907T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.442T>C MANE Select	ENSP00000237014.4:p.Ter148Arg
ENST00000610404.5:c.346T>C	ENSP00000477599.2:p.Ter116Arg
ENST00000649620.1:c.442T>C	ENSP00000497927.1:p.Ter148Arg
ENST00000237014.7:c.442T>C	ENSP00000237014.3:p.Ter148Arg
ENST00000610404.4:c.556T>C	ENSP00000477599.1:p.Ter186Arg
ENST00000613781.1:c.418T>C	ENSP00000479174.1:p.Ter140Arg
NM_000371.3:c.442T>C , LRG_416t1:c.442T>C	NP_000362.1:p.Ter148Arg
NM_000371.4:c.442T>C MANE Select	NP_000362.1:p.Ter148Arg