Canonical Allele Identifier: CA402156630

Gene: TTR

Linked Data

• dbSNP Id: rs121918093
• gnomAD v2: 18-29172907-G-C
• gnomAD v4: 18-31592944-G-C
• MyVariant Identifiers: chr18:g.29172907G>C (hg19) ; chr18:g.31592944G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592944G>C , CM000680.2:g.31592944G>C	GRCh38
NC_000018.9:g.29172907G>C , CM000680.1:g.29172907G>C	GRCh37
NC_000018.8:g.27426905G>C	NCBI36
NG_009490.1:g.6178G>C , LRG_416:g.6178G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.118G>C MANE Select	ENSP00000237014.4:p.Val40Leu
ENST00000610404.5:c.22G>C	ENSP00000477599.2:p.Val8Leu
ENST00000649620.1:c.118G>C	ENSP00000497927.1:p.Val40Leu
ENST00000237014.7:c.118G>C	ENSP00000237014.3:p.Val40Leu
ENST00000432547.7:n.144G>C
ENST00000541025.2:n.144G>C
ENST00000610404.4:c.118G>C	ENSP00000477599.1:p.Val40Leu
ENST00000613781.1:c.118G>C	ENSP00000479174.1:p.Val40Leu
NM_000371.3:c.118G>C , LRG_416t1:c.118G>C	NP_000362.1:p.Val40Leu
NM_000371.4:c.118G>C MANE Select	NP_000362.1:p.Val40Leu