Canonical Allele Identifier: CA1309007

Gene: ASPM

Linked Data

• dbSNP Id: rs749449214
• ExAC: 1:197062232 A / AT
• gnomAD v2: 1-197062232-A-AT
• gnomAD v4: 1-197093102-A-AT
• MyVariant Identifiers: chr1:g.197062232_197062233insT (hg19) ; chr1:g.197093102_197093103insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093108dup , CM000663.2:g.197093108dup	GRCh38
NC_000001.10:g.197062238dup , CM000663.1:g.197062238dup	GRCh37
NC_000001.9:g.195328861dup	NCBI36
NG_015867.1:g.58592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2530dup
ENST00000367409.9:c.9243dup MANE Select	ENSP00000356379.4:p.Ser3082IlefsTer?
ENST00000680265.1:c.9465dup	ENSP00000505384.1:p.Ser3156IlefsTer?
ENST00000680710.1:c.9243dup	ENSP00000506676.1:p.Ser3082IlefsTer?
ENST00000294732.11:c.4488dup	ENSP00000294732.7:p.Ser1497IlefsTer?
ENST00000367408.5:c.2238dup	ENSP00000356378.1:p.Ser747IlefsTer?
ENST00000367409.8:c.9243dup	ENSP00000356379.4:p.Ser3082IlefsTer?
ENST00000612785.1:c.3201dup	ENSP00000479244.1:p.Ser1068IlefsTer?
NM_001206846.1:c.4488dup	NP_001193775.1:p.Ser1497IlefsTer?
NM_018136.4:c.9243dup	NP_060606.3:p.Ser3082IlefsTer?
NM_018136.5:c.9243dup MANE Select	NP_060606.3:p.Ser3082IlefsTer?
NM_001206846.2:c.4488dup	NP_001193775.1:p.Ser1497IlefsTer?