Canonical Allele Identifier: CA402156479

Gene: TTR

Linked Data

• ClinVar Variation Id: 1313300
• ClinVar RCV Id: RCV001769251 ; RCV001868586
• dbSNP Id: rs1313375879
• gnomAD v4: 18-31592909-C-T
• MyVariant Identifiers: chr18:g.29172872C>T (hg19) ; chr18:g.31592909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592909C>T , CM000680.2:g.31592909C>T	GRCh38
NC_000018.9:g.29172872C>T , CM000680.1:g.29172872C>T	GRCh37
NC_000018.8:g.27426870C>T	NCBI36
NG_009490.1:g.6143C>T , LRG_416:g.6143C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.83C>T MANE Select	ENSP00000237014.4:p.Ser28Phe
ENST00000610404.5:c.-14C>T	ENSP00000477599.2:n.-14C>T
ENST00000649620.1:c.83C>T	ENSP00000497927.1:p.Ser28Phe
ENST00000237014.7:c.83C>T	ENSP00000237014.3:p.Ser28Phe
ENST00000432547.7:n.109C>T
ENST00000541025.2:n.109C>T
ENST00000610404.4:c.83C>T	ENSP00000477599.1:p.Ser28Phe
ENST00000613781.1:c.83C>T	ENSP00000479174.1:p.Ser28Phe
NM_000371.3:c.83C>T , LRG_416t1:c.83C>T	NP_000362.1:p.Ser28Phe
NM_000371.4:c.83C>T MANE Select	NP_000362.1:p.Ser28Phe