Canonical Allele Identifier: CA422805168

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059360G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3082C>T
ENST00000367409.9:c.9795C>T MANE Select	ENSP00000356379.4:p.His3265=
ENST00000680265.1:c.10017C>T	ENSP00000505384.1:p.His3339=
ENST00000680710.1:c.9771C>T	ENSP00000506676.1:p.His3257=
ENST00000294732.11:c.5040C>T	ENSP00000294732.7:p.His1680=
ENST00000367408.5:c.2790C>T	ENSP00000356378.1:p.His930=
ENST00000367409.8:c.9795C>T	ENSP00000356379.4:p.His3265=
ENST00000612785.1:c.3753C>T	ENSP00000479244.1:p.His1251=
NM_001206846.1:c.5040C>T	NP_001193775.1:p.His1680=
NM_018136.4:c.9795C>T	NP_060606.3:p.His3265=
NM_018136.5:c.9795C>T MANE Select	NP_060606.3:p.His3265=
NM_001206846.2:c.5040C>T	NP_001193775.1:p.His1680=