Canonical Allele Identifier: CA182022

Gene: TTR

Linked Data

• ClinVar Variation Id: 178279
• ClinVar RCV Id: RCV000155020 ; RCV000228167 ; RCV000766992 ; RCV002390349 ; RCV002484933
• dbSNP Id: rs145551875
• ExAC: 18:29172929 A / G
• gnomAD v2: 18-29172929-A-G
• gnomAD v3: 18-31592966-A-G
• gnomAD v4: 18-31592966-A-G
• MyVariant Identifiers: chr18:g.29172929A>G (hg19) ; chr18:g.31592966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592966A>G , CM000680.2:g.31592966A>G	GRCh38
NC_000018.9:g.29172929A>G , CM000680.1:g.29172929A>G	GRCh37
NC_000018.8:g.27426927A>G	NCBI36
NG_009490.1:g.6200A>G , LRG_416:g.6200A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.140A>G MANE Select	ENSP00000237014.4:p.Asn47Ser
ENST00000610404.5:c.44A>G	ENSP00000477599.2:p.Asn15Ser
ENST00000649620.1:c.140A>G	ENSP00000497927.1:p.Asn47Ser
ENST00000237014.7:c.140A>G	ENSP00000237014.3:p.Asn47Ser
ENST00000432547.7:n.166A>G
ENST00000541025.2:n.166A>G
ENST00000610404.4:c.140A>G	ENSP00000477599.1:p.Asn47Ser
ENST00000613781.1:c.140A>G	ENSP00000479174.1:p.Asn47Ser
NM_000371.3:c.140A>G , LRG_416t1:c.140A>G	NP_000362.1:p.Asn47Ser
NM_000371.4:c.140A>G MANE Select	NP_000362.1:p.Asn47Ser