Canonical Allele Identifier: CA729731385

Gene: ASPM

Linked Data

• dbSNP Id: rs1410074335
• MyVariant Identifiers: chr1:g.197073219del (hg19) ; chr1:g.197104089del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104092del , CM000663.2:g.197104092del	GRCh38
NC_000001.10:g.197073222del , CM000663.1:g.197073222del	GRCh37
NC_000001.9:g.195339845del	NCBI36
NG_015867.1:g.47606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7925del
ENST00000367409.9:c.5162del MANE Select	ENSP00000356379.4:p.Lys1721ArgfsTer28
ENST00000680265.1:c.5162del	ENSP00000505384.1:p.Lys1721ArgfsTer28
ENST00000680710.1:c.5162del	ENSP00000506676.1:p.Lys1721ArgfsTer28
ENST00000294732.11:c.4066-7925del	ENSP00000294732.7:n.4066-7925del
ENST00000367408.5:c.1816-7925del	ENSP00000356378.1:n.1816-7925del
ENST00000367409.8:c.5162del	ENSP00000356379.4:p.Lys1721ArgfsTer28
ENST00000612785.1:c.562-1442del	ENSP00000479244.1:n.562-1442del
NM_001206846.1:c.4066-7925del	NP_001193775.1:n.4066-7925del
NM_018136.4:c.5162del	NP_060606.3:p.Lys1721ArgfsTer28
NM_018136.5:c.5162del MANE Select	NP_060606.3:p.Lys1721ArgfsTer28
NM_001206846.2:c.4066-7925del	NP_001193775.1:n.4066-7925del