Canonical Allele Identifier: CA8928410

Gene: TTR

Linked Data

• dbSNP Id: rs768273993
• ExAC: 18:29172887 T / C
• gnomAD v2: 18-29172887-T-C
• gnomAD v4: 18-31592924-T-C
• MyVariant Identifiers: chr18:g.29172887T>C (hg19) ; chr18:g.31592924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592924T>C , CM000680.2:g.31592924T>C	GRCh38
NC_000018.9:g.29172887T>C , CM000680.1:g.29172887T>C	GRCh37
NC_000018.8:g.27426885T>C	NCBI36
NG_009490.1:g.6158T>C , LRG_416:g.6158T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.98T>C MANE Select	ENSP00000237014.4:p.Met33Thr
ENST00000610404.5:c.2T>C	ENSP00000477599.2:p.Met1Thr
ENST00000649620.1:c.98T>C	ENSP00000497927.1:p.Met33Thr
ENST00000237014.7:c.98T>C	ENSP00000237014.3:p.Met33Thr
ENST00000432547.7:n.124T>C
ENST00000541025.2:n.124T>C
ENST00000610404.4:c.98T>C	ENSP00000477599.1:p.Met33Thr
ENST00000613781.1:c.98T>C	ENSP00000479174.1:p.Met33Thr
NM_000371.3:c.98T>C , LRG_416t1:c.98T>C	NP_000362.1:p.Met33Thr
NM_000371.4:c.98T>C MANE Select	NP_000362.1:p.Met33Thr