Canonical Allele Identifier: CA503609293
Community Standard Title: NM_000371.4(TTR):c.45A>G (p.Val15=)
Gene: TTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31591947A>G , CM000680.2:g.31591947A>G GRCh38
NC_000018.9:g.29171910A>G , CM000680.1:g.29171910A>G GRCh37
NC_000018.8:g.27425908A>G NCBI36
NG_009490.1:g.5181A>G , LRG_416:g.5181A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000371.4:c.45A>G MANE Select NP_000362.1:p.Val15=
ENST00000237014.8:c.45A>G MANE Select ENSP00000237014.4:p.Val15=
NM_000371.3:c.45A>G , LRG_416t1:c.45A>G NP_000362.1:p.Val15=
ENST00000237014.7:c.45A>G ENSP00000237014.3:p.Val15=
ENST00000432547.7:n.71A>G
ENST00000541025.2:n.71A>G
ENST00000610404.4:c.45A>G ENSP00000477599.1:p.Val15=
ENST00000610404.5:c.-27-949A>G ENSP00000477599.2:n.-27-949A>G
ENST00000613781.1:c.45A>G ENSP00000479174.1:p.Val15=
ENST00000613781.2:c.45A>G ENSP00000479174.2:p.Val15=
ENST00000649620.1:c.45A>G ENSP00000497927.1:p.Val15=
ENST00000676075.1:c.45A>G ENSP00000502027.1:p.Val15=