Canonical Allele Identifier: CA344003049

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060093G>T (hg19) ; chr1:g.197090963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090963G>T , CM000663.2:g.197090963G>T	GRCh38
NC_000001.10:g.197060093G>T , CM000663.1:g.197060093G>T	GRCh37
NC_000001.9:g.195326716G>T	NCBI36
NG_015867.1:g.60732C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2810C>A
ENST00000367409.9:c.9523C>A MANE Select	ENSP00000356379.4:p.Gln3175Lys
ENST00000680265.1:c.9745C>A	ENSP00000505384.1:p.Gln3249Lys
ENST00000680710.1:c.9499C>A	ENSP00000506676.1:p.Gln3167Lys
ENST00000294732.11:c.4768C>A	ENSP00000294732.7:p.Gln1590Lys
ENST00000367408.5:c.2518C>A	ENSP00000356378.1:p.Gln840Lys
ENST00000367409.8:c.9523C>A	ENSP00000356379.4:p.Gln3175Lys
ENST00000612785.1:c.3481C>A	ENSP00000479244.1:p.Gln1161Lys
NM_001206846.1:c.4768C>A	NP_001193775.1:p.Gln1590Lys
NM_018136.4:c.9523C>A	NP_060606.3:p.Gln3175Lys
NM_018136.5:c.9523C>A MANE Select	NP_060606.3:p.Gln3175Lys
NM_001206846.2:c.4768C>A	NP_001193775.1:p.Gln1590Lys