Canonical Allele Identifier: CA528534969

Gene: ASPM

Linked Data

• dbSNP Id: rs1490491600
• gnomAD v2: 1-197059262-A-T
• gnomAD v3: 1-197090132-A-T
• gnomAD v4: 1-197090132-A-T
• MyVariant Identifiers: chr1:g.197059262A>T (hg19) ; chr1:g.197090132A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090132A>T , CM000663.2:g.197090132A>T	GRCh38
NC_000001.10:g.197059262A>T , CM000663.1:g.197059262A>T	GRCh37
NC_000001.9:g.195325885A>T	NCBI36
NG_015867.1:g.61563T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3117-48T>A
ENST00000367409.9:c.9830-48T>A MANE Select	ENSP00000356379.4:n.9830-48T>A
ENST00000680265.1:c.10052-48T>A	ENSP00000505384.1:n.10052-48T>A
ENST00000680710.1:c.9806-48T>A	ENSP00000506676.1:n.9806-48T>A
ENST00000294732.11:c.5075-48T>A	ENSP00000294732.7:n.5075-48T>A
ENST00000367408.5:c.2825-48T>A	ENSP00000356378.1:n.2825-48T>A
ENST00000367409.8:c.9830-48T>A	ENSP00000356379.4:n.9830-48T>A
ENST00000612785.1:c.3788-48T>A	ENSP00000479244.1:n.3788-48T>A
NM_001206846.1:c.5075-48T>A	NP_001193775.1:n.5075-48T>A
NM_018136.4:c.9830-48T>A	NP_060606.3:n.9830-48T>A
NM_018136.5:c.9830-48T>A MANE Select	NP_060606.3:n.9830-48T>A
NM_001206846.2:c.5075-48T>A	NP_001193775.1:n.5075-48T>A