Canonical Allele Identifier: CA2641409111

Gene: TTR

Linked Data

• gnomAD v4: 18-31593032-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593032T>C , CM000680.2:g.31593032T>C	GRCh38
NC_000018.9:g.29172995T>C , CM000680.1:g.29172995T>C	GRCh37
NC_000018.8:g.27426993T>C	NCBI36
NG_009490.1:g.6266T>C , LRG_416:g.6266T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.200+6T>C MANE Select	ENSP00000237014.4:n.200+6T>C
ENST00000610404.5:c.104+6T>C	ENSP00000477599.2:n.104+6T>C
ENST00000649620.1:c.200+6T>C	ENSP00000497927.1:n.200+6T>C
ENST00000237014.7:c.200+6T>C	ENSP00000237014.3:n.200+6T>C
ENST00000432547.7:n.232T>C
ENST00000541025.2:n.226+6T>C
ENST00000610404.4:c.200+6T>C	ENSP00000477599.1:n.200+6T>C
ENST00000613781.1:c.200+6T>C	ENSP00000479174.1:n.200+6T>C
NM_000371.3:c.200+6T>C , LRG_416t1:c.200+6T>C	NP_000362.1:n.200+6T>C
NM_000371.4:c.200+6T>C MANE Select	NP_000362.1:n.200+6T>C