Canonical Allele Identifier: CA344001595

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059332G>T (hg19) ; chr1:g.197090202G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090202G>T , CM000663.2:g.197090202G>T	GRCh38
NC_000001.10:g.197059332G>T , CM000663.1:g.197059332G>T	GRCh37
NC_000001.9:g.195325955G>T	NCBI36
NG_015867.1:g.61493C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3110C>A
ENST00000367409.9:c.9823C>A MANE Select	ENSP00000356379.4:p.His3275Asn
ENST00000680265.1:c.10045C>A	ENSP00000505384.1:p.His3349Asn
ENST00000680710.1:c.9799C>A	ENSP00000506676.1:p.His3267Asn
ENST00000294732.11:c.5068C>A	ENSP00000294732.7:p.His1690Asn
ENST00000367408.5:c.2818C>A	ENSP00000356378.1:p.His940Asn
ENST00000367409.8:c.9823C>A	ENSP00000356379.4:p.His3275Asn
ENST00000612785.1:c.3781C>A	ENSP00000479244.1:p.His1261Asn
NM_001206846.1:c.5068C>A	NP_001193775.1:p.His1690Asn
NM_018136.4:c.9823C>A	NP_060606.3:p.His3275Asn
NM_018136.5:c.9823C>A MANE Select	NP_060606.3:p.His3275Asn
NM_001206846.2:c.5068C>A	NP_001193775.1:p.His1690Asn