Canonical Allele Identifier: CA8617445
Gene: SPPL2C HGNC NCBI
MAPT-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.45846853T>C
GRCh37 chr17:g.43924219T>C
gnomAD v2:
17:43924219 T / C
gnomAD v3:
17:45846853 T / C
gnomAD v4:
chr17-45846853-T-C
Joint Max Group AF 0.22079285 (NFE)
Genomes Max Group AF 0.21399741 (NFE)
Exomes Max Group AF 0.22105055 (NFE)
dbSNP:
12373124
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45846853T>C , CM000679.2:g.45846853T>C GRCh38
NC_000017.10:g.43924219T>C , CM000679.1:g.43924219T>C GRCh37
NC_000017.9:g.41279999T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329196.7:c.1947T>C (SPPL2C) MANE Select ENSP00000332488.5:p.His649=
ENST00000329196.6:c.1947T>C (SPPL2C) ENSP00000332488.5:p.His649=
NM_175882.2:c.1947T>C (SPPL2C) NP_787078.2:p.His649=
NR_024559.1:n.35-2692A>G (MAPT-AS1)
NM_175882.3:c.1947T>C (SPPL2C) MANE Select NP_787078.2:p.His649=
Search 100 bp 5'
Search 100 bp 3'