Canonical Allele Identifier: CA1309715

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1494569
• ClinVar RCV Id: RCV001989441
• dbSNP Id: rs781257567
• ExAC: 1:197072725 G / A
• gnomAD v2: 1-197072725-G-A
• gnomAD v3: 1-197103595-G-A
• gnomAD v4: 1-197103595-G-A
• COSMIC: COSM5941459
• MyVariant Identifiers: chr1:g.197072725G>A (hg19) ; chr1:g.197103595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103595G>A , CM000663.2:g.197103595G>A	GRCh38
NC_000001.10:g.197072725G>A , CM000663.1:g.197072725G>A	GRCh37
NC_000001.9:g.195339348G>A	NCBI36
NG_015867.1:g.48100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7431C>T
ENST00000367409.9:c.5656C>T MANE Select	ENSP00000356379.4:p.Arg1886Cys
ENST00000680265.1:c.5656C>T	ENSP00000505384.1:p.Arg1886Cys
ENST00000680710.1:c.5656C>T	ENSP00000506676.1:p.Arg1886Cys
ENST00000294732.11:c.4066-7431C>T	ENSP00000294732.7:n.4066-7431C>T
ENST00000367408.5:c.1816-7431C>T	ENSP00000356378.1:n.1816-7431C>T
ENST00000367409.8:c.5656C>T	ENSP00000356379.4:p.Arg1886Cys
ENST00000612785.1:c.562-948C>T	ENSP00000479244.1:n.562-948C>T
NM_001206846.1:c.4066-7431C>T	NP_001193775.1:n.4066-7431C>T
NM_018136.4:c.5656C>T	NP_060606.3:p.Arg1886Cys
NM_018136.5:c.5656C>T MANE Select	NP_060606.3:p.Arg1886Cys
NM_001206846.2:c.4066-7431C>T	NP_001193775.1:n.4066-7431C>T