Canonical Allele Identifier: CA503609373
Community Standard Title: NM_000371.4(TTR):c.69G>C (p.Thr23=)
Gene: TTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31591971G>C , CM000680.2:g.31591971G>C GRCh38
NC_000018.9:g.29171934G>C , CM000680.1:g.29171934G>C GRCh37
NC_000018.8:g.27425932G>C NCBI36
NG_009490.1:g.5205G>C , LRG_416:g.5205G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000371.4:c.69G>C MANE Select NP_000362.1:p.Thr23=
ENST00000237014.8:c.69G>C MANE Select ENSP00000237014.4:p.Thr23=
NM_000371.3:c.69G>C , LRG_416t1:c.69G>C NP_000362.1:p.Thr23=
ENST00000237014.7:c.69G>C ENSP00000237014.3:p.Thr23=
ENST00000432547.7:n.95G>C
ENST00000541025.2:n.95G>C
ENST00000610404.4:c.69G>C ENSP00000477599.1:p.Thr23=
ENST00000610404.5:c.-27-925G>C ENSP00000477599.2:n.-27-925G>C
ENST00000613781.1:c.69G>C ENSP00000479174.1:p.Thr23=
ENST00000613781.2:c.69G>C ENSP00000479174.2:p.Thr23=
ENST00000649620.1:c.69G>C ENSP00000497927.1:p.Thr23=
ENST00000676075.1:c.69G>C ENSP00000502027.1:p.Thr23=