Canonical Allele Identifier: CA242573

Gene: ASPM

Linked Data

• ClinVar Variation Id: 195902
• ClinVar RCV Id: RCV000176583
• dbSNP Id: rs748383126
• ExAC: 1:197059221 G / GA
• gnomAD v2: 1-197059221-G-GA
• gnomAD v3: 1-197090091-G-GA
• gnomAD v4: 1-197090091-G-GA
• MyVariant Identifiers: chr1:g.197059222dupA (hg19) ; chr1:g.197059222_197059223insA (hg19) ; chr1:g.197059221_197059222insA (hg19) ; chr1:g.197090092dupA (hg38) ; chr1:g.197090092_197090093insA (hg38) ; chr1:g.197090091_197090092insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090101dup , CM000663.2:g.197090101dup	GRCh38
NC_000001.10:g.197059231dup , CM000663.1:g.197059231dup	GRCh37
NC_000001.9:g.195325854dup	NCBI36
NG_015867.1:g.61603dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3117-8dup
ENST00000367409.9:c.9830-8dup MANE Select	ENSP00000356379.4:n.9830-8dup
ENST00000680265.1:c.10052-8dup	ENSP00000505384.1:n.10052-8dup
ENST00000680710.1:c.9806-8dup	ENSP00000506676.1:n.9806-8dup
ENST00000294732.11:c.5075-8dup	ENSP00000294732.7:n.5075-8dup
ENST00000367408.5:c.2825-8dup	ENSP00000356378.1:n.2825-8dup
ENST00000367409.8:c.9830-8dup	ENSP00000356379.4:n.9830-8dup
ENST00000612785.1:c.3788-8dup	ENSP00000479244.1:n.3788-8dup
NM_001206846.1:c.5075-8dup	NP_001193775.1:n.5075-8dup
NM_018136.4:c.9830-8dup	NP_060606.3:n.9830-8dup
NM_018136.5:c.9830-8dup MANE Select	NP_060606.3:n.9830-8dup
NM_001206846.2:c.5075-8dup	NP_001193775.1:n.5075-8dup