Canonical Allele Identifier: CA344001923

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090343T>C , CM000663.2:g.197090343T>C	GRCh38
NC_000001.10:g.197059473T>C , CM000663.1:g.197059473T>C	GRCh37
NC_000001.9:g.195326096T>C	NCBI36
NG_015867.1:g.61352A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.9682A>G MANE Select	NP_060606.3:p.Lys3228Glu
ENST00000367409.9:c.9682A>G MANE Select	ENSP00000356379.4:p.Lys3228Glu
NM_001206846.1:c.4927A>G	NP_001193775.1:p.Lys1643Glu
NM_001206846.2:c.4927A>G	NP_001193775.1:p.Lys1643Glu
NM_018136.4:c.9682A>G	NP_060606.3:p.Lys3228Glu
ENST00000294732.11:c.4927A>G	ENSP00000294732.7:p.Lys1643Glu
ENST00000367408.5:c.2677A>G	ENSP00000356378.1:p.Lys893Glu
ENST00000367408.6:n.2969A>G
ENST00000367409.8:c.9682A>G	ENSP00000356379.4:p.Lys3228Glu
ENST00000612785.1:c.3640A>G	ENSP00000479244.1:p.Lys1214Glu
ENST00000680265.1:c.9904A>G	ENSP00000505384.1:p.Lys3302Glu
ENST00000680710.1:c.9658A>G	ENSP00000506676.1:p.Lys3220Glu