Canonical Allele Identifier: CA1308762

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197086912G>A , CM000663.2:g.197086912G>A	GRCh38
NC_000001.10:g.197056042G>A , CM000663.1:g.197056042G>A	GRCh37
NC_000001.9:g.195322665G>A	NCBI36
NG_015867.1:g.64783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3509C>T
ENST00000367409.9:c.10222C>T MANE Select	ENSP00000356379.4:p.His3408Tyr
ENST00000680265.1:c.10444C>T	ENSP00000505384.1:p.His3482Tyr
ENST00000680710.1:c.10198C>T	ENSP00000506676.1:p.His3400Tyr
ENST00000294732.11:c.5467C>T	ENSP00000294732.7:p.His1823Tyr
ENST00000367408.5:c.3217C>T	ENSP00000356378.1:p.His1073Tyr
ENST00000367409.8:c.10222C>T	ENSP00000356379.4:p.His3408Tyr
NM_001206846.1:c.5467C>T	NP_001193775.1:p.His1823Tyr
NM_018136.4:c.10222C>T	NP_060606.3:p.His3408Tyr
NM_018136.5:c.10222C>T MANE Select	NP_060606.3:p.His3408Tyr
NM_001206846.2:c.5467C>T	NP_001193775.1:p.His1823Tyr