Canonical Allele Identifier: CA1308756
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197086873G>T
GRCh37 chr1:g.197056003G>T
Revel Score:
ENST00000367409 (MANE Select) 0.171
ENST00000294732 0.171
ENST00000367408 0.171
gnomAD v2:
1:197056003 G / T
gnomAD v3:
1:197086873 G / T
gnomAD v4:
chr1-197086873-G-T
Joint Max Group AF 0.00245883 (EAS)
Genomes Max Group AF 0.00104938 (EAS)
Exomes Max Group AF 0.00254621 (EAS)
ClinVar RCV:
RCV000328716
RCV000901975
ClinVar Variation:
294594
dbSNP:
201191528
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197086873G>T , CM000663.2:g.197086873G>T GRCh38
NC_000001.10:g.197056003G>T , CM000663.1:g.197056003G>T GRCh37
NC_000001.9:g.195322626G>T NCBI36
NG_015867.1:g.64822C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3548C>A
ENST00000367409.9:c.10261C>A MANE Select ENSP00000356379.4:p.Gln3421Lys
ENST00000680265.1:c.10483C>A ENSP00000505384.1:p.Gln3495Lys
ENST00000680710.1:c.10237C>A ENSP00000506676.1:p.Gln3413Lys
ENST00000294732.11:c.5506C>A ENSP00000294732.7:p.Gln1836Lys
ENST00000367408.5:c.3256C>A ENSP00000356378.1:p.Gln1086Lys
ENST00000367409.8:c.10261C>A ENSP00000356379.4:p.Gln3421Lys
NM_001206846.1:c.5506C>A NP_001193775.1:p.Gln1836Lys
NM_018136.4:c.10261C>A NP_060606.3:p.Gln3421Lys
NM_018136.5:c.10261C>A MANE Select NP_060606.3:p.Gln3421Lys
NM_001206846.2:c.5506C>A NP_001193775.1:p.Gln1836Lys
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