Canonical Allele Identifier: CA402156746

Gene: TTR

Linked Data

• ClinVar Variation Id: 2138144
• ClinVar RCV Id: RCV003050501
• MyVariant Identifiers: chr18:g.29172937G>T (hg19) ; chr18:g.31592974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592974G>T , CM000680.2:g.31592974G>T	GRCh38
NC_000018.9:g.29172937G>T , CM000680.1:g.29172937G>T	GRCh37
NC_000018.8:g.27426935G>T	NCBI36
NG_009490.1:g.6208G>T , LRG_416:g.6208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.148G>T MANE Select	ENSP00000237014.4:p.Val50Leu
ENST00000610404.5:c.52G>T	ENSP00000477599.2:p.Val18Leu
ENST00000649620.1:c.148G>T	ENSP00000497927.1:p.Val50Leu
ENST00000237014.7:c.148G>T	ENSP00000237014.3:p.Val50Leu
ENST00000432547.7:n.174G>T
ENST00000541025.2:n.174G>T
ENST00000610404.4:c.148G>T	ENSP00000477599.1:p.Val50Leu
ENST00000613781.1:c.148G>T	ENSP00000479174.1:p.Val50Leu
NM_000371.3:c.148G>T , LRG_416t1:c.148G>T	NP_000362.1:p.Val50Leu
NM_000371.4:c.148G>T MANE Select	NP_000362.1:p.Val50Leu