Canonical Allele Identifier: CA8617308
Gene: SPPL2C HGNC NCBI
MAPT-AS1 HGNC NCBI
ClinVar RCV:
RCV004465223
ClinVar Variation:
3169344
COSMIC:
COSM2695462
dbSNP:
200992535
gnomAD v2:
17:43923555 G / A
gnomAD v3:
17:45846189 G / A
gnomAD v4:
chr17-45846189-G-A
Joint Max Group AF 0.00010198 (AMR)
Genomes Max Group AF 0.00002259 (AMR)
Exomes Max Group AF 0.00010427 (AMR)
MyVariant.info:
GRCh38 chr17:g.45846189G>A
GRCh37 chr17:g.43923555G>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45846189G>A , CM000679.2:g.45846189G>A GRCh38
NC_000017.10:g.43923555G>A , CM000679.1:g.43923555G>A GRCh37
NC_000017.9:g.41279335G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329196.7:c.1283G>A (SPPL2C) MANE Select ENSP00000332488.5:p.Arg428Gln
ENST00000329196.6:c.1283G>A (SPPL2C) ENSP00000332488.5:p.Arg428Gln
NM_175882.2:c.1283G>A (SPPL2C) NP_787078.2:p.Arg428Gln
NR_024559.1:n.35-2028C>T (MAPT-AS1)
NM_175882.3:c.1283G>A (SPPL2C) MANE Select NP_787078.2:p.Arg428Gln
Search 100 bp 5'
Search 100 bp 3'