Canonical Allele Identifier: CA1308998

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1408916
• ClinVar RCV Id: RCV001930250 ; RCV004042814
• dbSNP Id: rs146444278
• ExAC: 1:197062189 C / T
• gnomAD v2: 1-197062189-C-T
• gnomAD v3: 1-197093059-C-T
• gnomAD v4: 1-197093059-C-T
• MyVariant Identifiers: chr1:g.197062189C>T (hg19) ; chr1:g.197093059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093059C>T , CM000663.2:g.197093059C>T	GRCh38
NC_000001.10:g.197062189C>T , CM000663.1:g.197062189C>T	GRCh37
NC_000001.9:g.195328812C>T	NCBI36
NG_015867.1:g.58636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2574G>A
ENST00000367409.9:c.9287G>A MANE Select	ENSP00000356379.4:p.Arg3096Gln
ENST00000680265.1:c.9509G>A	ENSP00000505384.1:p.Arg3170Gln
ENST00000680710.1:c.9287G>A	ENSP00000506676.1:p.Arg3096Gln
ENST00000294732.11:c.4532G>A	ENSP00000294732.7:p.Arg1511Gln
ENST00000367408.5:c.2282G>A	ENSP00000356378.1:p.Arg761Gln
ENST00000367409.8:c.9287G>A	ENSP00000356379.4:p.Arg3096Gln
ENST00000612785.1:c.3245G>A	ENSP00000479244.1:p.Arg1082Gln
NM_001206846.1:c.4532G>A	NP_001193775.1:p.Arg1511Gln
NM_018136.4:c.9287G>A	NP_060606.3:p.Arg3096Gln
NM_018136.5:c.9287G>A MANE Select	NP_060606.3:p.Arg3096Gln
NM_001206846.2:c.4532G>A	NP_001193775.1:p.Arg1511Gln