Canonical Allele Identifier: CA1308795
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197088321C>T
GRCh37 chr1:g.197057451C>T
Revel Score:
ENST00000367409 (MANE Select) 0.134
ENST00000294732 0.134
ENST00000367408 0.134
ENST00000367406 0.134
gnomAD v2:
1:197057451 C / T
gnomAD v3:
1:197088321 C / T
gnomAD v4:
chr1-197088321-C-T
Joint Max Group AF 0.00116751 (EAS)
Genomes Max Group AF 0.00224854 (EAS)
Exomes Max Group AF 0.00091582 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088321C>T , CM000663.2:g.197088321C>T GRCh38
NC_000001.10:g.197057451C>T , CM000663.1:g.197057451C>T GRCh37
NC_000001.9:g.195324074C>T NCBI36
NG_015867.1:g.63374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3383G>A
ENST00000367409.9:c.10096G>A MANE Select ENSP00000356379.4:p.Gly3366Arg
ENST00000680265.1:c.10318G>A ENSP00000505384.1:p.Gly3440Arg
ENST00000680710.1:c.10072G>A ENSP00000506676.1:p.Gly3358Arg
ENST00000294732.11:c.5341G>A ENSP00000294732.7:p.Gly1781Arg
ENST00000367408.5:c.3091G>A ENSP00000356378.1:p.Gly1031Arg
ENST00000367409.8:c.10096G>A ENSP00000356379.4:p.Gly3366Arg
ENST00000612785.1:c.4054G>A ENSP00000479244.1:p.Gly1352Arg
NM_001206846.1:c.5341G>A NP_001193775.1:p.Gly1781Arg
NM_018136.4:c.10096G>A NP_060606.3:p.Gly3366Arg
NM_018136.5:c.10096G>A MANE Select NP_060606.3:p.Gly3366Arg
NM_001206846.2:c.5341G>A NP_001193775.1:p.Gly1781Arg
Search 100 bp 5'
Search 100 bp 3'