Canonical Allele Identifier: CA729743328

Gene: ASPM

Linked Data

• dbSNP Id: rs1302000472
• gnomAD v3: 1-197088109-GA-G
• gnomAD v4: 1-197088109-GA-G
• MyVariant Identifiers: chr1:g.197057240del (hg19) ; chr1:g.197088110del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088111del , CM000663.2:g.197088111del	GRCh38
NC_000001.10:g.197057241del , CM000663.1:g.197057241del	GRCh37
NC_000001.9:g.195323864del	NCBI36
NG_015867.1:g.63585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3448+146del
ENST00000367409.9:c.10161+146del MANE Select	ENSP00000356379.4:n.10161+146del
ENST00000680265.1:c.10383+146del	ENSP00000505384.1:n.10383+146del
ENST00000680710.1:c.10137+146del	ENSP00000506676.1:n.10137+146del
ENST00000294732.11:c.5406+146del	ENSP00000294732.7:n.5406+146del
ENST00000367408.5:c.3156+146del	ENSP00000356378.1:n.3156+146del
ENST00000367409.8:c.10161+146del	ENSP00000356379.4:n.10161+146del
NM_001206846.1:c.5406+146del	NP_001193775.1:n.5406+146del
NM_018136.4:c.10161+146del	NP_060606.3:n.10161+146del
NM_018136.5:c.10161+146del MANE Select	NP_060606.3:n.10161+146del
NM_001206846.2:c.5406+146del	NP_001193775.1:n.5406+146del