Canonical Allele Identifier: CA342221

Gene: ASPM

Linked Data

• ClinVar Variation Id: 402179
• ClinVar RCV Id: RCV000020749 ; RCV000454234 ; RCV000483372
• dbSNP Id: rs199422146
• ExAC: 1:197111651 GCT / G
• gnomAD v2: 1-197111651-GCT-G
• gnomAD v3: 1-197142521-GCT-G
• gnomAD v4: 1-197142521-GCT-G
• MyVariant Identifiers: chr1:g.197111654_197111655del (hg19) ; chr1:g.197111652_197111653del (hg19) ; chr1:g.197142524_197142525del (hg38) ; chr1:g.197142522_197142523del (hg38)
• PubMed: PMID:20301772 ; PMID:26539891

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142524_197142525del , CM000663.2:g.197142524_197142525del	GRCh38
NC_000001.10:g.197111654_197111655del , CM000663.1:g.197111654_197111655del	GRCh37
NC_000001.9:g.195378277_195378278del	NCBI36
NG_015867.1:g.9172_9173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1729_1730del MANE Select	ENSP00000356379.4:p.Ser577ArgfsTer?
ENST00000679766.1:n.1946_1947del
ENST00000680265.1:c.1729_1730del	ENSP00000505384.1:p.Ser577ArgfsTer?
ENST00000680710.1:c.1729_1730del	ENSP00000506676.1:p.Ser577ArgfsTer?
ENST00000681879.1:c.1729_1730del	ENSP00000505363.1:p.Ser577ArgfsTer?
ENST00000294732.11:c.1729_1730del	ENSP00000294732.7:p.Ser577ArgfsTer?
ENST00000367409.8:c.1729_1730del	ENSP00000356379.4:p.Ser577ArgfsTer?
ENST00000612785.1:c.561+1168_561+1169del	ENSP00000479244.1:n.561+1168_561+1169del
NM_001206846.1:c.1729_1730del	NP_001193775.1:p.Ser577ArgfsTer?
NM_018136.4:c.1729_1730del	NP_060606.3:p.Ser577ArgfsTer?
NM_018136.5:c.1729_1730del MANE Select	NP_060606.3:p.Ser577ArgfsTer?
NM_001206846.2:c.1729_1730del	NP_001193775.1:p.Ser577ArgfsTer?