Canonical Allele Identifier: CA171261

Gene: ASPM

Linked Data

• ClinVar Variation Id: 157882
• ClinVar RCV Id: RCV000145201
• dbSNP Id: rs587783274
• gnomAD v3: 1-197101393-G-T
• gnomAD v4: 1-197101393-G-T
• MyVariant Identifiers: chr1:g.197070523G>T (hg19) ; chr1:g.197101393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101393G>T , CM000663.2:g.197101393G>T	GRCh38
NC_000001.10:g.197070523G>T , CM000663.1:g.197070523G>T	GRCh37
NC_000001.9:g.195337146G>T	NCBI36
NG_015867.1:g.50302C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5229C>A
ENST00000367409.9:c.7858C>A MANE Select	ENSP00000356379.4:p.Gln2620Lys
ENST00000680265.1:c.7858C>A	ENSP00000505384.1:p.Gln2620Lys
ENST00000680710.1:c.7858C>A	ENSP00000506676.1:p.Gln2620Lys
ENST00000294732.11:c.4066-5229C>A	ENSP00000294732.7:n.4066-5229C>A
ENST00000367408.5:c.1816-5229C>A	ENSP00000356378.1:n.1816-5229C>A
ENST00000367409.8:c.7858C>A	ENSP00000356379.4:p.Gln2620Lys
ENST00000612785.1:c.1816C>A	ENSP00000479244.1:p.Gln606Lys
NM_001206846.1:c.4066-5229C>A	NP_001193775.1:n.4066-5229C>A
NM_018136.4:c.7858C>A	NP_060606.3:p.Gln2620Lys
NM_018136.5:c.7858C>A MANE Select	NP_060606.3:p.Gln2620Lys
NM_001206846.2:c.4066-5229C>A	NP_001193775.1:n.4066-5229C>A