Canonical Allele Identifier: CA344003352

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090991-A-T
• MyVariant Identifiers: chr1:g.197060121A>T (hg19) ; chr1:g.197090991A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090991A>T , CM000663.2:g.197090991A>T	GRCh38
NC_000001.10:g.197060121A>T , CM000663.1:g.197060121A>T	GRCh37
NC_000001.9:g.195326744A>T	NCBI36
NG_015867.1:g.60704T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2782T>A
ENST00000367409.9:c.9495T>A MANE Select	ENSP00000356379.4:p.His3165Gln
ENST00000680265.1:c.9717T>A	ENSP00000505384.1:p.His3239Gln
ENST00000680710.1:c.9471T>A	ENSP00000506676.1:p.His3157Gln
ENST00000294732.11:c.4740T>A	ENSP00000294732.7:p.His1580Gln
ENST00000367408.5:c.2490T>A	ENSP00000356378.1:p.His830Gln
ENST00000367409.8:c.9495T>A	ENSP00000356379.4:p.His3165Gln
ENST00000612785.1:c.3453T>A	ENSP00000479244.1:p.His1151Gln
NM_001206846.1:c.4740T>A	NP_001193775.1:p.His1580Gln
NM_018136.4:c.9495T>A	NP_060606.3:p.His3165Gln
NM_018136.5:c.9495T>A MANE Select	NP_060606.3:p.His3165Gln
NM_001206846.2:c.4740T>A	NP_001193775.1:p.His1580Gln