Canonical Allele Identifier: CA1308876

Gene: ASPM

Linked Data

• dbSNP Id: rs538369400
• ExAC: 1:197059442 A / T
• gnomAD v2: 1-197059442-A-T
• gnomAD v3: 1-197090312-A-T
• gnomAD v4: 1-197090312-A-T
• MyVariant Identifiers: chr1:g.197059442A>T (hg19) ; chr1:g.197090312A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090312A>T , CM000663.2:g.197090312A>T	GRCh38
NC_000001.10:g.197059442A>T , CM000663.1:g.197059442A>T	GRCh37
NC_000001.9:g.195326065A>T	NCBI36
NG_015867.1:g.61383T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3000T>A
ENST00000367409.9:c.9713T>A MANE Select	ENSP00000356379.4:p.Val3238Asp
ENST00000680265.1:c.9935T>A	ENSP00000505384.1:p.Val3312Asp
ENST00000680710.1:c.9689T>A	ENSP00000506676.1:p.Val3230Asp
ENST00000294732.11:c.4958T>A	ENSP00000294732.7:p.Val1653Asp
ENST00000367408.5:c.2708T>A	ENSP00000356378.1:p.Val903Asp
ENST00000367409.8:c.9713T>A	ENSP00000356379.4:p.Val3238Asp
ENST00000612785.1:c.3671T>A	ENSP00000479244.1:p.Val1224Asp
NM_001206846.1:c.4958T>A	NP_001193775.1:p.Val1653Asp
NM_018136.4:c.9713T>A	NP_060606.3:p.Val3238Asp
NM_018136.5:c.9713T>A MANE Select	NP_060606.3:p.Val3238Asp
NM_001206846.2:c.4958T>A	NP_001193775.1:p.Val1653Asp