Canonical Allele Identifier: CA402156723

Gene: TTR

Linked Data

• MyVariant Identifiers: chr18:g.29172931G>A (hg19) ; chr18:g.31592968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592968G>A , CM000680.2:g.31592968G>A	GRCh38
NC_000018.9:g.29172931G>A , CM000680.1:g.29172931G>A	GRCh37
NC_000018.8:g.27426929G>A	NCBI36
NG_009490.1:g.6202G>A , LRG_416:g.6202G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.142G>A MANE Select	ENSP00000237014.4:p.Val48Met
ENST00000610404.5:c.46G>A	ENSP00000477599.2:p.Val16Met
ENST00000649620.1:c.142G>A	ENSP00000497927.1:p.Val48Met
ENST00000237014.7:c.142G>A	ENSP00000237014.3:p.Val48Met
ENST00000432547.7:n.168G>A
ENST00000541025.2:n.168G>A
ENST00000610404.4:c.142G>A	ENSP00000477599.1:p.Val48Met
ENST00000613781.1:c.142G>A	ENSP00000479174.1:p.Val48Met
NM_000371.3:c.142G>A , LRG_416t1:c.142G>A	NP_000362.1:p.Val48Met
NM_000371.4:c.142G>A MANE Select	NP_000362.1:p.Val48Met