Canonical Allele Identifier: CA344003372

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060123G>A (hg19) ; chr1:g.197090993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090993G>A , CM000663.2:g.197090993G>A	GRCh38
NC_000001.10:g.197060123G>A , CM000663.1:g.197060123G>A	GRCh37
NC_000001.9:g.195326746G>A	NCBI36
NG_015867.1:g.60702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2780C>T
ENST00000367409.9:c.9493C>T MANE Select	ENSP00000356379.4:p.His3165Tyr
ENST00000680265.1:c.9715C>T	ENSP00000505384.1:p.His3239Tyr
ENST00000680710.1:c.9469C>T	ENSP00000506676.1:p.His3157Tyr
ENST00000294732.11:c.4738C>T	ENSP00000294732.7:p.His1580Tyr
ENST00000367408.5:c.2488C>T	ENSP00000356378.1:p.His830Tyr
ENST00000367409.8:c.9493C>T	ENSP00000356379.4:p.His3165Tyr
ENST00000612785.1:c.3451C>T	ENSP00000479244.1:p.His1151Tyr
NM_001206846.1:c.4738C>T	NP_001193775.1:p.His1580Tyr
NM_018136.4:c.9493C>T	NP_060606.3:p.His3165Tyr
NM_018136.5:c.9493C>T MANE Select	NP_060606.3:p.His3165Tyr
NM_001206846.2:c.4738C>T	NP_001193775.1:p.His1580Tyr