Canonical Allele Identifier: CA271079
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197103120T>C
GRCh37 chr1:g.197072250T>C
Revel Score:
ENST00000367409 (MANE Select) 0.062
gnomAD v2:
1:197072250 T / C
gnomAD v3:
1:197103120 T / C
gnomAD v4:
chr1-197103120-T-C
Joint Max Group AF 0.00029607 (NFE)
Genomes Max Group AF 0.00007922 (NFE)
Exomes Max Group AF 0.00030507 (NFE)
ClinVar RCV:
RCV000145163
RCV000994210
ClinVar Variation:
157851
dbSNP:
145645602
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197103120T>C , CM000663.2:g.197103120T>C GRCh38
NC_000001.10:g.197072250T>C , CM000663.1:g.197072250T>C GRCh37
NC_000001.9:g.195338873T>C NCBI36
NG_015867.1:g.48575A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-6956A>G
ENST00000367409.9:c.6131A>G MANE Select ENSP00000356379.4:p.Asn2044Ser
ENST00000680265.1:c.6131A>G ENSP00000505384.1:p.Asn2044Ser
ENST00000680710.1:c.6131A>G ENSP00000506676.1:p.Asn2044Ser
ENST00000294732.11:c.4066-6956A>G ENSP00000294732.7:n.4066-6956A>G
ENST00000367408.5:c.1816-6956A>G ENSP00000356378.1:n.1816-6956A>G
ENST00000367409.8:c.6131A>G ENSP00000356379.4:p.Asn2044Ser
ENST00000612785.1:c.562-473A>G ENSP00000479244.1:n.562-473A>G
NM_001206846.1:c.4066-6956A>G NP_001193775.1:n.4066-6956A>G
NM_018136.4:c.6131A>G NP_060606.3:p.Asn2044Ser
NM_018136.5:c.6131A>G MANE Select NP_060606.3:p.Asn2044Ser
NM_001206846.2:c.4066-6956A>G NP_001193775.1:n.4066-6956A>G
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