Canonical Allele Identifier: CA1310223

Gene: ASPM

Linked Data

• ClinVar Variation Id: 585443
• ClinVar RCV Id: RCV000710628
• dbSNP Id: rs763084553
• ExAC: 1:197093407 G / C
• gnomAD v2: 1-197093407-G-C
• gnomAD v4: 1-197124277-G-C
• MyVariant Identifiers: chr1:g.197093407G>C (hg19) ; chr1:g.197124277G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124277G>C , CM000663.2:g.197124277G>C	GRCh38
NC_000001.10:g.197093407G>C , CM000663.1:g.197093407G>C	GRCh37
NC_000001.9:g.195360030G>C	NCBI36
NG_015867.1:g.27418C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1265C>G
ENST00000367409.9:c.3223C>G MANE Select	ENSP00000356379.4:p.His1075Asp
ENST00000680112.1:n.1279C>G
ENST00000680265.1:c.3223C>G	ENSP00000505384.1:p.His1075Asp
ENST00000680710.1:c.3223C>G	ENSP00000506676.1:p.His1075Asp
ENST00000681879.1:c.3223C>G	ENSP00000505363.1:p.His1075Asp
ENST00000294732.11:c.3223C>G	ENSP00000294732.7:p.His1075Asp
ENST00000367408.5:c.973C>G	ENSP00000356378.1:p.His325Asp
ENST00000367409.8:c.3223C>G	ENSP00000356379.4:p.His1075Asp
ENST00000612785.1:c.561+19414C>G	ENSP00000479244.1:n.561+19414C>G
NM_001206846.1:c.3223C>G	NP_001193775.1:p.His1075Asp
NM_018136.4:c.3223C>G	NP_060606.3:p.His1075Asp
NM_018136.5:c.3223C>G MANE Select	NP_060606.3:p.His1075Asp
NM_001206846.2:c.3223C>G	NP_001193775.1:p.His1075Asp