Canonical Allele Identifier: CA402156304

Gene: TTR

Linked Data

• ClinVar Variation Id: 579863
• ClinVar RCV Id: RCV000703248 ; RCV002458294
• dbSNP Id: rs1567945391
• MyVariant Identifiers: chr18:g.29171899G>T (hg19) ; chr18:g.31591936G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31591936G>T , CM000680.2:g.31591936G>T	GRCh38
NC_000018.9:g.29171899G>T , CM000680.1:g.29171899G>T	GRCh37
NC_000018.8:g.27425897G>T	NCBI36
NG_009490.1:g.5170G>T , LRG_416:g.5170G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.34G>T MANE Select	ENSP00000237014.4:p.Ala12Ser
ENST00000610404.5:c.-27-960G>T	ENSP00000477599.2:n.-27-960G>T
ENST00000613781.2:c.34G>T	ENSP00000479174.2:p.Ala12Ser
ENST00000649620.1:c.34G>T	ENSP00000497927.1:p.Ala12Ser
ENST00000676075.1:c.34G>T	ENSP00000502027.1:p.Ala12Ser
ENST00000237014.7:c.34G>T	ENSP00000237014.3:p.Ala12Ser
ENST00000432547.7:n.60G>T
ENST00000541025.2:n.60G>T
ENST00000610404.4:c.34G>T	ENSP00000477599.1:p.Ala12Ser
ENST00000613781.1:c.34G>T	ENSP00000479174.1:p.Ala12Ser
NM_000371.3:c.34G>T , LRG_416t1:c.34G>T	NP_000362.1:p.Ala12Ser
NM_000371.4:c.34G>T MANE Select	NP_000362.1:p.Ala12Ser