Canonical Allele Identifier: CA271103

Gene: ASPM

Linked Data

• ClinVar Variation Id: 157874
• ClinVar RCV Id: RCV000145191
• dbSNP Id: rs587783269
• MyVariant Identifiers: chr1:g.197070716del (hg19) ; chr1:g.197101586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101588del , CM000663.2:g.197101588del	GRCh38
NC_000001.10:g.197070718del , CM000663.1:g.197070718del	GRCh37
NC_000001.9:g.195337341del	NCBI36
NG_015867.1:g.50109del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5422del
ENST00000367409.9:c.7665del MANE Select	ENSP00000356379.4:p.Ala2556LeufsTer4
ENST00000680265.1:c.7665del	ENSP00000505384.1:p.Ala2556LeufsTer4
ENST00000680710.1:c.7665del	ENSP00000506676.1:p.Ala2556LeufsTer4
ENST00000294732.11:c.4066-5422del	ENSP00000294732.7:n.4066-5422del
ENST00000367408.5:c.1816-5422del	ENSP00000356378.1:n.1816-5422del
ENST00000367409.8:c.7665del	ENSP00000356379.4:p.Ala2556LeufsTer4
ENST00000612785.1:c.1623del	ENSP00000479244.1:p.Ala542LeufsTer4
NM_001206846.1:c.4066-5422del	NP_001193775.1:n.4066-5422del
NM_018136.4:c.7665del	NP_060606.3:p.Ala2556LeufsTer4
NM_018136.5:c.7665del MANE Select	NP_060606.3:p.Ala2556LeufsTer4
NM_001206846.2:c.4066-5422del	NP_001193775.1:n.4066-5422del