Canonical Allele Identifier: CA402157110
Gene: TTR HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000371.4:c.311T>A MANE Select NP_000362.1:p.Ile104Asn
ENST00000237014.8:c.311T>A MANE Select ENSP00000237014.4:p.Ile104Asn
NM_000371.3:c.311T>A , LRG_416t1:c.311T>A NP_000362.1:p.Ile104Asn
ENST00000237014.7:c.311T>A ENSP00000237014.3:p.Ile104Asn
ENST00000541025.2:n.337T>A
ENST00000610404.4:c.311T>A ENSP00000477599.1:p.Ile104Asn
ENST00000610404.5:c.215T>A ENSP00000477599.2:p.Ile72Asn
ENST00000613781.1:c.311T>A ENSP00000479174.1:p.Ile104Asn
ENST00000649620.1:c.311T>A ENSP00000497927.1:p.Ile104Asn