Canonical Allele Identifier: CA342299

Gene: ASPM

Linked Data

• ClinVar Variation Id: 21627
• ClinVar RCV Id: RCV000020817
• dbSNP Id: rs199422188
• MyVariant Identifiers: chr1:g.197060109del (hg19) ; chr1:g.197090979del (hg38)
• PubMed: PMID:20301772

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090979del , CM000663.2:g.197090979del	GRCh38
NC_000001.10:g.197060109del , CM000663.1:g.197060109del	GRCh37
NC_000001.9:g.195326732del	NCBI36
NG_015867.1:g.60716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2794del
ENST00000367409.9:c.9507del MANE Select	ENSP00000356379.4:p.Ile3170LeufsTer9
ENST00000680265.1:c.9729del	ENSP00000505384.1:p.Ile3244LeufsTer9
ENST00000680710.1:c.9483del	ENSP00000506676.1:p.Ile3162LeufsTer9
ENST00000294732.11:c.4752del	ENSP00000294732.7:p.Ile1585LeufsTer9
ENST00000367408.5:c.2502del	ENSP00000356378.1:p.Ile835LeufsTer9
ENST00000367409.8:c.9507del	ENSP00000356379.4:p.Ile3170LeufsTer9
ENST00000612785.1:c.3465del	ENSP00000479244.1:p.Ile1156LeufsTer9
NM_001206846.1:c.4752del	NP_001193775.1:p.Ile1585LeufsTer9
NM_018136.4:c.9507del	NP_060606.3:p.Ile3170LeufsTer9
NM_018136.5:c.9507del MANE Select	NP_060606.3:p.Ile3170LeufsTer9
NM_001206846.2:c.4752del	NP_001193775.1:p.Ile1585LeufsTer9