Canonical Allele Identifier: CA528535109

Gene: ASPM

Linked Data

• dbSNP Id: rs1476051894
• gnomAD v2: 1-197057743-A-AT
• gnomAD v3: 1-197088613-A-AT
• gnomAD v4: 1-197088613-A-AT
• MyVariant Identifiers: chr1:g.197057743_197057744insT (hg19) ; chr1:g.197088613_197088614insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088614dup , CM000663.2:g.197088614dup	GRCh38
NC_000001.10:g.197057744dup , CM000663.1:g.197057744dup	GRCh37
NC_000001.9:g.195324367dup	NCBI36
NG_015867.1:g.63081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3272-182dup
ENST00000367409.9:c.9985-182dup MANE Select	ENSP00000356379.4:n.9985-182dup
ENST00000680265.1:c.10207-182dup	ENSP00000505384.1:n.10207-182dup
ENST00000680710.1:c.9961-182dup	ENSP00000506676.1:n.9961-182dup
ENST00000294732.11:c.5230-182dup	ENSP00000294732.7:n.5230-182dup
ENST00000367408.5:c.2980-182dup	ENSP00000356378.1:n.2980-182dup
ENST00000367409.8:c.9985-182dup	ENSP00000356379.4:n.9985-182dup
ENST00000612785.1:c.3943-182dup	ENSP00000479244.1:n.3943-182dup
NM_001206846.1:c.5230-182dup	NP_001193775.1:n.5230-182dup
NM_018136.4:c.9985-182dup	NP_060606.3:n.9985-182dup
NM_018136.5:c.9985-182dup MANE Select	NP_060606.3:n.9985-182dup
NM_001206846.2:c.5230-182dup	NP_001193775.1:n.5230-182dup