Canonical Allele Identifier: CA8617023
Gene: SPPL2C HGNC NCBI
MAPT-AS1 HGNC NCBI
ClinVar RCV:
RCV000969825
ClinVar Variation:
787567
dbSNP:
145837446
gnomAD v2:
17:43922409 A / G
gnomAD v3:
17:45845043 A / G
gnomAD v4:
chr17-45845043-A-G
Joint Max Group AF 0.00250118 (NFE)
Genomes Max Group AF 0.00266357 (NFE)
Exomes Max Group AF 0.00247345 (NFE)
MyVariant.info:
GRCh38 chr17:g.45845043A>G
GRCh37 chr17:g.43922409A>G
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45845043A>G , CM000679.2:g.45845043A>G GRCh38
NC_000017.10:g.43922409A>G , CM000679.1:g.43922409A>G GRCh37
NC_000017.9:g.41278189A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329196.7:c.137A>G (SPPL2C) MANE Select ENSP00000332488.5:p.Tyr46Cys
ENST00000329196.6:c.137A>G (SPPL2C) ENSP00000332488.5:p.Tyr46Cys
NM_175882.2:c.137A>G (SPPL2C) NP_787078.2:p.Tyr46Cys
NR_024559.1:n.35-882T>C (MAPT-AS1)
NM_175882.3:c.137A>G (SPPL2C) MANE Select NP_787078.2:p.Tyr46Cys
Search 100 bp 5'
Search 100 bp 3'