Canonical Allele Identifier: CA344001680

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090230-G-T
• MyVariant Identifiers: chr1:g.197059360G>T (hg19) ; chr1:g.197090230G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090230G>T , CM000663.2:g.197090230G>T	GRCh38
NC_000001.10:g.197059360G>T , CM000663.1:g.197059360G>T	GRCh37
NC_000001.9:g.195325983G>T	NCBI36
NG_015867.1:g.61465C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3082C>A
ENST00000367409.9:c.9795C>A MANE Select	ENSP00000356379.4:p.His3265Gln
ENST00000680265.1:c.10017C>A	ENSP00000505384.1:p.His3339Gln
ENST00000680710.1:c.9771C>A	ENSP00000506676.1:p.His3257Gln
ENST00000294732.11:c.5040C>A	ENSP00000294732.7:p.His1680Gln
ENST00000367408.5:c.2790C>A	ENSP00000356378.1:p.His930Gln
ENST00000367409.8:c.9795C>A	ENSP00000356379.4:p.His3265Gln
ENST00000612785.1:c.3753C>A	ENSP00000479244.1:p.His1251Gln
NM_001206846.1:c.5040C>A	NP_001193775.1:p.His1680Gln
NM_018136.4:c.9795C>A	NP_060606.3:p.His3265Gln
NM_018136.5:c.9795C>A MANE Select	NP_060606.3:p.His3265Gln
NM_001206846.2:c.5040C>A	NP_001193775.1:p.His1680Gln