Canonical Allele Identifier: CA8928492

Gene: TTR

Linked Data

• dbSNP Id: rs745742247
• ExAC: 18:29178508 G / T
• gnomAD v2: 18-29178508-G-T
• gnomAD v4: 18-31598545-G-T
• MyVariant Identifiers: chr18:g.29178508G>T (hg19) ; chr18:g.31598545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598545G>T , CM000680.2:g.31598545G>T	GRCh38
NC_000018.9:g.29178508G>T , CM000680.1:g.29178508G>T	GRCh37
NC_000018.8:g.27432506G>T	NCBI36
NG_009490.1:g.11779G>T , LRG_416:g.11779G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.337-23G>T MANE Select	ENSP00000237014.4:n.337-23G>T
ENST00000610404.5:c.241-23G>T	ENSP00000477599.2:n.241-23G>T
ENST00000649620.1:c.337-23G>T	ENSP00000497927.1:n.337-23G>T
ENST00000237014.7:c.337-23G>T	ENSP00000237014.3:n.337-23G>T
ENST00000610404.4:c.451-23G>T	ENSP00000477599.1:n.451-23G>T
ENST00000613781.1:c.337-23G>T	ENSP00000479174.1:n.337-23G>T
NM_000371.3:c.337-23G>T , LRG_416t1:c.337-23G>T	NP_000362.1:n.337-23G>T
NM_000371.4:c.337-23G>T MANE Select	NP_000362.1:n.337-23G>T