Canonical Allele Identifier: CA182025

Gene: TTR

Linked Data

• ClinVar Variation Id: 178280
• ClinVar RCV Id: RCV000155021 ; RCV000766993 ; RCV000474349 ; RCV001173294 ; RCV001798511 ; RCV002408691
• dbSNP Id: rs138065384
• ExAC: 18:29172979 T / C
• gnomAD v2: 18-29172979-T-C
• gnomAD v3: 18-31593016-T-C
• gnomAD v4: 18-31593016-T-C
• MyVariant Identifiers: chr18:g.29172979T>C (hg19) ; chr18:g.31593016T>C (hg38)
• PubMed: PMID:19781421

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593016T>C , CM000680.2:g.31593016T>C	GRCh38
NC_000018.9:g.29172979T>C , CM000680.1:g.29172979T>C	GRCh37
NC_000018.8:g.27426977T>C	NCBI36
NG_009490.1:g.6250T>C , LRG_416:g.6250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.190T>C MANE Select	ENSP00000237014.4:p.Phe64Leu
ENST00000610404.5:c.94T>C	ENSP00000477599.2:p.Phe32Leu
ENST00000649620.1:c.190T>C	ENSP00000497927.1:p.Phe64Leu
ENST00000237014.7:c.190T>C	ENSP00000237014.3:p.Phe64Leu
ENST00000432547.7:n.216T>C
ENST00000541025.2:n.216T>C
ENST00000610404.4:c.190T>C	ENSP00000477599.1:p.Phe64Leu
ENST00000613781.1:c.190T>C	ENSP00000479174.1:p.Phe64Leu
NM_000371.3:c.190T>C , LRG_416t1:c.190T>C	NP_000362.1:p.Phe64Leu
NM_000371.4:c.190T>C MANE Select	NP_000362.1:p.Phe64Leu