Canonical Allele Identifier: CA729731664

Gene: ASPM

Linked Data

• dbSNP Id: rs1476144174
• gnomAD v3: 1-197104232-C-CT
• gnomAD v4: 1-197104232-C-CT
• MyVariant Identifiers: chr1:g.197073362_197073363insT (hg19) ; chr1:g.197104232_197104233insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104237dup , CM000663.2:g.197104237dup	GRCh38
NC_000001.10:g.197073367dup , CM000663.1:g.197073367dup	GRCh37
NC_000001.9:g.195339990dup	NCBI36
NG_015867.1:g.47462dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8069dup
ENST00000367409.9:c.5018dup MANE Select	ENSP00000356379.4:p.Glu1674GlyfsTer17
ENST00000680265.1:c.5018dup	ENSP00000505384.1:p.Glu1674GlyfsTer17
ENST00000680710.1:c.5018dup	ENSP00000506676.1:p.Glu1674GlyfsTer17
ENST00000294732.11:c.4066-8069dup	ENSP00000294732.7:n.4066-8069dup
ENST00000367408.5:c.1816-8069dup	ENSP00000356378.1:n.1816-8069dup
ENST00000367409.8:c.5018dup	ENSP00000356379.4:p.Glu1674GlyfsTer17
ENST00000612785.1:c.562-1586dup	ENSP00000479244.1:n.562-1586dup
NM_001206846.1:c.4066-8069dup	NP_001193775.1:n.4066-8069dup
NM_018136.4:c.5018dup	NP_060606.3:p.Glu1674GlyfsTer17
NM_018136.5:c.5018dup MANE Select	NP_060606.3:p.Glu1674GlyfsTer17
NM_001206846.2:c.4066-8069dup	NP_001193775.1:n.4066-8069dup