Canonical Allele Identifier: CA528534996

Gene: ASPM

Linked Data

• dbSNP Id: rs199422169
• gnomAD v2: 1-197072042-A-AAT
• MyVariant Identifiers: chr1:g.197072042_197072043insAT (hg19) ; chr1:g.197102912_197102913insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102915_197102916dup , CM000663.2:g.197102915_197102916dup	GRCh38
NC_000001.10:g.197072045_197072046dup , CM000663.1:g.197072045_197072046dup	GRCh37
NC_000001.9:g.195338668_195338669dup	NCBI36
NG_015867.1:g.48781_48782dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6750_2108-6749dup
ENST00000367409.9:c.6337_6338dup MANE Select	ENSP00000356379.4:p.Gln2114PhefsTer22
ENST00000680265.1:c.6337_6338dup	ENSP00000505384.1:p.Gln2114PhefsTer22
ENST00000680710.1:c.6337_6338dup	ENSP00000506676.1:p.Gln2114PhefsTer22
ENST00000294732.11:c.4066-6750_4066-6749dup	ENSP00000294732.7:n.4066-6750_4066-6749dup
ENST00000367408.5:c.1816-6750_1816-6749dup	ENSP00000356378.1:n.1816-6750_1816-6749dup
ENST00000367409.8:c.6337_6338dup	ENSP00000356379.4:p.Gln2114PhefsTer22
ENST00000612785.1:c.562-267_562-266dup	ENSP00000479244.1:n.562-267_562-266dup
NM_001206846.1:c.4066-6750_4066-6749dup	NP_001193775.1:n.4066-6750_4066-6749dup
NM_018136.4:c.6337_6338dup	NP_060606.3:p.Gln2114PhefsTer22
NM_018136.5:c.6337_6338dup MANE Select	NP_060606.3:p.Gln2114PhefsTer22
NM_001206846.2:c.4066-6750_4066-6749dup	NP_001193775.1:n.4066-6750_4066-6749dup