Canonical Allele Identifier: CA256816

Gene: TTR

Linked Data

• ClinVar Variation Id: 13436
• ClinVar RCV Id: RCV000014378
• dbSNP Id: rs387906523
• MyVariant Identifiers: chr18:g.29172988G>C (hg19) ; chr18:g.31593025G>C (hg38)
• PubMed: PMID:1734866 ; PMID:10845569

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593025G>C , CM000680.2:g.31593025G>C	GRCh38
NC_000018.9:g.29172988G>C , CM000680.1:g.29172988G>C	GRCh37
NC_000018.8:g.27426986G>C	NCBI36
NG_009490.1:g.6259G>C , LRG_416:g.6259G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.199G>C MANE Select	ENSP00000237014.4:p.Gly67Arg
ENST00000610404.5:c.103G>C	ENSP00000477599.2:p.Gly35Arg
ENST00000649620.1:c.199G>C	ENSP00000497927.1:p.Gly67Arg
ENST00000237014.7:c.199G>C	ENSP00000237014.3:p.Gly67Arg
ENST00000432547.7:n.225G>C
ENST00000541025.2:n.225G>C
ENST00000610404.4:c.199G>C	ENSP00000477599.1:p.Gly67Arg
ENST00000613781.1:c.199G>C	ENSP00000479174.1:p.Gly67Arg
NM_000371.3:c.199G>C , LRG_416t1:c.199G>C	NP_000362.1:p.Gly67Arg
NM_000371.4:c.199G>C MANE Select	NP_000362.1:p.Gly67Arg