Canonical Allele Identifier: CA1309217
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197100799C>A
GRCh37 chr1:g.197069929C>A
Revel Score:
ENST00000367409 (MANE Select) 0.181
ENST00000367406 0.181
gnomAD v2:
1:197069929 C / A
gnomAD v3:
1:197100799 C / A
gnomAD v4:
chr1-197100799-C-A
Joint Max Group AF 0.00692255 (EAS)
Genomes Max Group AF 0.00604542 (EAS)
Exomes Max Group AF 0.00683339 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197100799C>A , CM000663.2:g.197100799C>A GRCh38
NC_000001.10:g.197069929C>A , CM000663.1:g.197069929C>A GRCh37
NC_000001.9:g.195336552C>A NCBI36
NG_015867.1:g.50896G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-4635G>T
ENST00000367409.9:c.8452G>T MANE Select ENSP00000356379.4:p.Ala2818Ser
ENST00000680265.1:c.8452G>T ENSP00000505384.1:p.Ala2818Ser
ENST00000680710.1:c.8452G>T ENSP00000506676.1:p.Ala2818Ser
ENST00000294732.11:c.4066-4635G>T ENSP00000294732.7:n.4066-4635G>T
ENST00000367408.5:c.1816-4635G>T ENSP00000356378.1:n.1816-4635G>T
ENST00000367409.8:c.8452G>T ENSP00000356379.4:p.Ala2818Ser
ENST00000612785.1:c.2410G>T ENSP00000479244.1:p.Ala804Ser
NM_001206846.1:c.4066-4635G>T NP_001193775.1:n.4066-4635G>T
NM_018136.4:c.8452G>T NP_060606.3:p.Ala2818Ser
NM_018136.5:c.8452G>T MANE Select NP_060606.3:p.Ala2818Ser
NM_001206846.2:c.4066-4635G>T NP_001193775.1:n.4066-4635G>T
Search 100 bp 5'
Search 100 bp 3'