Canonical Allele Identifier: CA236375

Gene: ASPM

Linked Data

• ClinVar Variation Id: 191263
• ClinVar RCV Id: RCV000171453
• dbSNP Id: rs786205609
• MyVariant Identifiers: chr1:g.197073317del (hg19) ; chr1:g.197104187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104187del , CM000663.2:g.197104187del	GRCh38
NC_000001.10:g.197073317del , CM000663.1:g.197073317del	GRCh37
NC_000001.9:g.195339940del	NCBI36
NG_015867.1:g.47508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8023del
ENST00000367409.9:c.5064del MANE Select	ENSP00000356379.4:p.Val1689LeufsTer3
ENST00000680265.1:c.5064del	ENSP00000505384.1:p.Val1689LeufsTer3
ENST00000680710.1:c.5064del	ENSP00000506676.1:p.Val1689LeufsTer3
ENST00000294732.11:c.4066-8023del	ENSP00000294732.7:n.4066-8023del
ENST00000367408.5:c.1816-8023del	ENSP00000356378.1:n.1816-8023del
ENST00000367409.8:c.5064del	ENSP00000356379.4:p.Val1689LeufsTer3
ENST00000612785.1:c.562-1540del	ENSP00000479244.1:n.562-1540del
NM_001206846.1:c.4066-8023del	NP_001193775.1:n.4066-8023del
NM_018136.4:c.5064del	NP_060606.3:p.Val1689LeufsTer3
NM_018136.5:c.5064del MANE Select	NP_060606.3:p.Val1689LeufsTer3
NM_001206846.2:c.4066-8023del	NP_001193775.1:n.4066-8023del