Canonical Allele Identifier: CA8928506

Gene: TTR

Linked Data

• dbSNP Id: rs749079577
• ExAC: 18:29178569 C / A
• gnomAD v2: 18-29178569-C-A
• gnomAD v4: 18-31598606-C-A
• MyVariant Identifiers: chr18:g.29178569C>A (hg19) ; chr18:g.31598606C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598606C>A , CM000680.2:g.31598606C>A	GRCh38
NC_000018.9:g.29178569C>A , CM000680.1:g.29178569C>A	GRCh37
NC_000018.8:g.27432567C>A	NCBI36
NG_009490.1:g.11840C>A , LRG_416:g.11840C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.375C>A MANE Select	ENSP00000237014.4:p.Tyr125Ter
ENST00000610404.5:c.279C>A	ENSP00000477599.2:p.Tyr93Ter
ENST00000649620.1:c.375C>A	ENSP00000497927.1:p.Tyr125Ter
ENST00000237014.7:c.375C>A	ENSP00000237014.3:p.Tyr125Ter
ENST00000610404.4:c.489C>A	ENSP00000477599.1:p.Tyr163Ter
ENST00000613781.1:c.375C>A	ENSP00000479174.1:p.Tyr125Ter
NM_000371.3:c.375C>A , LRG_416t1:c.375C>A	NP_000362.1:p.Tyr125Ter
NM_000371.4:c.375C>A MANE Select	NP_000362.1:p.Tyr125Ter