Canonical Allele Identifier: CA344003046

Gene: ASPM

Linked Data

• dbSNP Id: rs1656764461
• MyVariant Identifiers: chr1:g.197060093G>C (hg19) ; chr1:g.197090963G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2810C>G
ENST00000367409.9:c.9523C>G MANE Select	ENSP00000356379.4:p.Gln3175Glu
ENST00000680265.1:c.9745C>G	ENSP00000505384.1:p.Gln3249Glu
ENST00000680710.1:c.9499C>G	ENSP00000506676.1:p.Gln3167Glu
ENST00000294732.11:c.4768C>G	ENSP00000294732.7:p.Gln1590Glu
ENST00000367408.5:c.2518C>G	ENSP00000356378.1:p.Gln840Glu
ENST00000367409.8:c.9523C>G	ENSP00000356379.4:p.Gln3175Glu
ENST00000612785.1:c.3481C>G	ENSP00000479244.1:p.Gln1161Glu
NM_001206846.1:c.4768C>G	NP_001193775.1:p.Gln1590Glu
NM_018136.4:c.9523C>G	NP_060606.3:p.Gln3175Glu
NM_018136.5:c.9523C>G MANE Select	NP_060606.3:p.Gln3175Glu
NM_001206846.2:c.4768C>G	NP_001193775.1:p.Gln1590Glu