Canonical Allele Identifier: CA8617334
Gene: SPPL2C HGNC NCBI
MAPT-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.45846317A>G
GRCh37 chr17:g.43923683A>G
Revel Score:
ENST00000329196 (MANE Select) 0.022
gnomAD v2:
17:43923683 A / G
gnomAD v3:
17:45846317 A / G
gnomAD v4:
chr17-45846317-A-G
Joint Max Group AF 0.22078747 (NFE)
Genomes Max Group AF 0.21436158 (NFE)
Exomes Max Group AF 0.22102248 (NFE)
dbSNP:
12185268
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45846317A>G , CM000679.2:g.45846317A>G GRCh38
NC_000017.10:g.43923683A>G , CM000679.1:g.43923683A>G GRCh37
NC_000017.9:g.41279463A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329196.7:c.1411A>G (SPPL2C) MANE Select ENSP00000332488.5:p.Ile471Val
ENST00000329196.6:c.1411A>G (SPPL2C) ENSP00000332488.5:p.Ile471Val
NM_175882.2:c.1411A>G (SPPL2C) NP_787078.2:p.Ile471Val
NR_024559.1:n.35-2156T>C (MAPT-AS1)
NM_175882.3:c.1411A>G (SPPL2C) MANE Select NP_787078.2:p.Ile471Val
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