Canonical Allele Identifier: CA1310321

Gene: ASPM

Linked Data

• dbSNP Id: rs750015604
• ExAC: 1:197097627 G / A
• gnomAD v2: 1-197097627-G-A
• gnomAD v4: 1-197128497-G-A
• COSMIC: COSM2125394
• MyVariant Identifiers: chr1:g.197097627G>A (hg19) ; chr1:g.197128497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197128497G>A , CM000663.2:g.197128497G>A	GRCh38
NC_000001.10:g.197097627G>A , CM000663.1:g.197097627G>A	GRCh37
NC_000001.9:g.195364250G>A	NCBI36
NG_015867.1:g.23198C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.881C>T
ENST00000367409.9:c.2929C>T MANE Select	ENSP00000356379.4:p.Arg977Cys
ENST00000680112.1:n.985C>T
ENST00000680265.1:c.2929C>T	ENSP00000505384.1:p.Arg977Cys
ENST00000680710.1:c.2929C>T	ENSP00000506676.1:p.Arg977Cys
ENST00000681879.1:c.2929C>T	ENSP00000505363.1:p.Arg977Cys
ENST00000294732.11:c.2929C>T	ENSP00000294732.7:p.Arg977Cys
ENST00000367408.5:c.679C>T	ENSP00000356378.1:p.Arg227Cys
ENST00000367409.8:c.2929C>T	ENSP00000356379.4:p.Arg977Cys
ENST00000612785.1:c.561+15194C>T	ENSP00000479244.1:n.561+15194C>T
NM_001206846.1:c.2929C>T	NP_001193775.1:p.Arg977Cys
NM_018136.4:c.2929C>T	NP_060606.3:p.Arg977Cys
NM_018136.5:c.2929C>T MANE Select	NP_060606.3:p.Arg977Cys
NM_001206846.2:c.2929C>T	NP_001193775.1:p.Arg977Cys