Canonical Allele Identifier: CA344001735

Gene: ASPM

Linked Data

• dbSNP Id: rs1257258525
• gnomAD v2: 1-197059385-A-T
• gnomAD v3: 1-197090255-A-T
• gnomAD v4: 1-197090255-A-T
• MyVariant Identifiers: chr1:g.197059385A>T (hg19) ; chr1:g.197090255A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090255A>T , CM000663.2:g.197090255A>T	GRCh38
NC_000001.10:g.197059385A>T , CM000663.1:g.197059385A>T	GRCh37
NC_000001.9:g.195326008A>T	NCBI36
NG_015867.1:g.61440T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3057T>A
ENST00000367409.9:c.9770T>A MANE Select	ENSP00000356379.4:p.Leu3257His
ENST00000680265.1:c.9992T>A	ENSP00000505384.1:p.Leu3331His
ENST00000680710.1:c.9746T>A	ENSP00000506676.1:p.Leu3249His
ENST00000294732.11:c.5015T>A	ENSP00000294732.7:p.Leu1672His
ENST00000367408.5:c.2765T>A	ENSP00000356378.1:p.Leu922His
ENST00000367409.8:c.9770T>A	ENSP00000356379.4:p.Leu3257His
ENST00000612785.1:c.3728T>A	ENSP00000479244.1:p.Leu1243His
NM_001206846.1:c.5015T>A	NP_001193775.1:p.Leu1672His
NM_018136.4:c.9770T>A	NP_060606.3:p.Leu3257His
NM_018136.5:c.9770T>A MANE Select	NP_060606.3:p.Leu3257His
NM_001206846.2:c.5015T>A	NP_001193775.1:p.Leu1672His