Canonical Allele Identifier: CA8928423

Gene: TTR

Linked Data

• dbSNP Id: rs77980928
• ExAC: 18:29173012 C / T
• gnomAD v2: 18-29173012-C-T
• gnomAD v3: 18-31593049-C-T
• gnomAD v4: 18-31593049-C-T
• MyVariant Identifiers: chr18:g.29173012C>T (hg19) ; chr18:g.31593049C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593049C>T , CM000680.2:g.31593049C>T	GRCh38
NC_000018.9:g.29173012C>T , CM000680.1:g.29173012C>T	GRCh37
NC_000018.8:g.27427010C>T	NCBI36
NG_009490.1:g.6283C>T , LRG_416:g.6283C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.200+23C>T MANE Select	ENSP00000237014.4:n.200+23C>T
ENST00000610404.5:c.104+23C>T	ENSP00000477599.2:n.104+23C>T
ENST00000649620.1:c.200+23C>T	ENSP00000497927.1:n.200+23C>T
ENST00000237014.7:c.200+23C>T	ENSP00000237014.3:n.200+23C>T
ENST00000432547.7:n.249C>T
ENST00000541025.2:n.226+23C>T
ENST00000610404.4:c.200+23C>T	ENSP00000477599.1:n.200+23C>T
ENST00000613781.1:c.200+23C>T	ENSP00000479174.1:n.200+23C>T
NM_000371.3:c.200+23C>T , LRG_416t1:c.200+23C>T	NP_000362.1:n.200+23C>T
NM_000371.4:c.200+23C>T MANE Select	NP_000362.1:n.200+23C>T