Canonical Allele Identifier: CA399894900
Gene: SPPL2C HGNC NCBI
MAPT-AS1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45845777A>T , CM000679.2:g.45845777A>T GRCh38
NC_000017.10:g.43923143A>T , CM000679.1:g.43923143A>T GRCh37
NC_000017.9:g.41278923A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329196.7:c.871A>T (SPPL2C) MANE Select ENSP00000332488.5:p.Ile291Phe
ENST00000329196.6:c.871A>T (SPPL2C) ENSP00000332488.5:p.Ile291Phe
NM_175882.2:c.871A>T (SPPL2C) NP_787078.2:p.Ile291Phe
NR_024559.1:n.35-1616T>A (MAPT-AS1)
NM_175882.3:c.871A>T (SPPL2C) MANE Select NP_787078.2:p.Ile291Phe