Canonical Allele Identifier: CA402157111

Gene: TTR

Linked Data

• ClinVar Variation Id: 1452255
• ClinVar RCV Id: RCV001999713 ; RCV002324398
• dbSNP Id: rs121918072
• MyVariant Identifiers: chr18:g.29175193T>C (hg19) ; chr18:g.31595230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595230T>C , CM000680.2:g.31595230T>C	GRCh38
NC_000018.9:g.29175193T>C , CM000680.1:g.29175193T>C	GRCh37
NC_000018.8:g.27429191T>C	NCBI36
NG_009490.1:g.8464T>C , LRG_416:g.8464T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.311T>C MANE Select	ENSP00000237014.4:p.Ile104Thr
ENST00000610404.5:c.215T>C	ENSP00000477599.2:p.Ile72Thr
ENST00000649620.1:c.311T>C	ENSP00000497927.1:p.Ile104Thr
ENST00000237014.7:c.311T>C	ENSP00000237014.3:p.Ile104Thr
ENST00000541025.2:n.337T>C
ENST00000610404.4:c.311T>C	ENSP00000477599.1:p.Ile104Thr
ENST00000613781.1:c.311T>C	ENSP00000479174.1:p.Ile104Thr
NM_000371.3:c.311T>C , LRG_416t1:c.311T>C	NP_000362.1:p.Ile104Thr
NM_000371.4:c.311T>C MANE Select	NP_000362.1:p.Ile104Thr