Canonical Allele Identifier: CA10577223

Gene: ASPM

Linked Data

• ClinVar Variation Id: 234259
• ClinVar RCV Id: RCV000217588
• dbSNP Id: rs876660960
• gnomAD v2: 1-197070337-G-GT
• gnomAD v4: 1-197101207-G-GT
• MyVariant Identifiers: chr1:g.197070338dupT (hg19) ; chr1:g.197070337_197070338insT (hg19) ; chr1:g.197101208dupT (hg38) ; chr1:g.197101207_197101208insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101208dup , CM000663.2:g.197101208dup	GRCh38
NC_000001.10:g.197070338dup , CM000663.1:g.197070338dup	GRCh37
NC_000001.9:g.195336961dup	NCBI36
NG_015867.1:g.50487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5044dup
ENST00000367409.9:c.8043dup MANE Select	ENSP00000356379.4:p.Arg2682ThrfsTer26
ENST00000680265.1:c.8043dup	ENSP00000505384.1:p.Arg2682ThrfsTer26
ENST00000680710.1:c.8043dup	ENSP00000506676.1:p.Arg2682ThrfsTer26
ENST00000294732.11:c.4066-5044dup	ENSP00000294732.7:n.4066-5044dup
ENST00000367408.5:c.1816-5044dup	ENSP00000356378.1:n.1816-5044dup
ENST00000367409.8:c.8043dup	ENSP00000356379.4:p.Arg2682ThrfsTer26
ENST00000612785.1:c.2001dup	ENSP00000479244.1:p.Arg668ThrfsTer26
NM_001206846.1:c.4066-5044dup	NP_001193775.1:n.4066-5044dup
NM_018136.4:c.8043dup	NP_060606.3:p.Arg2682ThrfsTer26
NM_018136.5:c.8043dup MANE Select	NP_060606.3:p.Arg2682ThrfsTer26
NM_001206846.2:c.4066-5044dup	NP_001193775.1:n.4066-5044dup