Canonical Allele Identifier: CA399896247
Gene: SPPL2C HGNC NCBI
MAPT-AS1 HGNC NCBI
ClinVar RCV:
RCV004102809
ClinVar Variation:
2238817
dbSNP:
2062546274
gnomAD v3:
17:45846341 G / T
gnomAD v4:
chr17-45846341-G-T
Joint Max Group AF 0.000005 (NFE)
Exomes Max Group AF 0.00000989 (AFR)
MyVariant.info:
GRCh38 chr17:g.45846341G>T
GRCh37 chr17:g.43923707G>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45846341G>T , CM000679.2:g.45846341G>T GRCh38
NC_000017.10:g.43923707G>T , CM000679.1:g.43923707G>T GRCh37
NC_000017.9:g.41279487G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329196.7:c.1435G>T (SPPL2C) MANE Select ENSP00000332488.5:p.Ala479Ser
ENST00000329196.6:c.1435G>T (SPPL2C) ENSP00000332488.5:p.Ala479Ser
NM_175882.2:c.1435G>T (SPPL2C) NP_787078.2:p.Ala479Ser
NR_024559.1:n.35-2180C>A (MAPT-AS1)
NM_175882.3:c.1435G>T (SPPL2C) MANE Select NP_787078.2:p.Ala479Ser
Search 100 bp 5'
Search 100 bp 3'