Canonical Allele Identifier: CA241080
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197101183G>A
GRCh37 chr1:g.197070313G>A
Revel Score:
ENST00000367409 (MANE Select) 0.079
ENST00000367406 0.079
gnomAD v2:
1:197070313 G / A
gnomAD v3:
1:197101183 G / A
gnomAD v4:
chr1-197101183-G-A
Joint Max Group AF 0.00086763 (AFR)
Genomes Max Group AF 0.00087559 (AFR)
Exomes Max Group AF 0.00069647 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101183G>A , CM000663.2:g.197101183G>A GRCh38
NC_000001.10:g.197070313G>A , CM000663.1:g.197070313G>A GRCh37
NC_000001.9:g.195336936G>A NCBI36
NG_015867.1:g.50512C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-5019C>T
ENST00000367409.9:c.8068C>T MANE Select ENSP00000356379.4:p.Arg2690Trp
ENST00000680265.1:c.8068C>T ENSP00000505384.1:p.Arg2690Trp
ENST00000680710.1:c.8068C>T ENSP00000506676.1:p.Arg2690Trp
ENST00000294732.11:c.4066-5019C>T ENSP00000294732.7:n.4066-5019C>T
ENST00000367408.5:c.1816-5019C>T ENSP00000356378.1:n.1816-5019C>T
ENST00000367409.8:c.8068C>T ENSP00000356379.4:p.Arg2690Trp
ENST00000612785.1:c.2026C>T ENSP00000479244.1:p.Arg676Trp
NM_001206846.1:c.4066-5019C>T NP_001193775.1:n.4066-5019C>T
NM_018136.4:c.8068C>T NP_060606.3:p.Arg2690Trp
NM_018136.5:c.8068C>T MANE Select NP_060606.3:p.Arg2690Trp
NM_001206846.2:c.4066-5019C>T NP_001193775.1:n.4066-5019C>T
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