Canonical Allele Identifier: CA340325

Gene: ASPM

Linked Data

• ClinVar Variation Id: 4960
• ClinVar RCV Id: RCV000005248 ; RCV000214564 ; RCV001193347
• dbSNP Id: rs137852994
• ExAC: 1:197062298 G / A
• gnomAD v2: 1-197062298-G-A
• gnomAD v3: 1-197093168-G-A
• gnomAD v4: 1-197093168-G-A
• MyVariant Identifiers: chr1:g.197062298G>A (hg19) ; chr1:g.197093168G>A (hg38)
• PubMed: PMID:15355437 ; PMID:20301772

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093168G>A , CM000663.2:g.197093168G>A	GRCh38
NC_000001.10:g.197062298G>A , CM000663.1:g.197062298G>A	GRCh37
NC_000001.9:g.195328921G>A	NCBI36
NG_015867.1:g.58527C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2465C>T
ENST00000367409.9:c.9178C>T MANE Select	ENSP00000356379.4:p.Gln3060Ter
ENST00000680265.1:c.9400C>T	ENSP00000505384.1:p.Gln3134Ter
ENST00000680710.1:c.9178C>T	ENSP00000506676.1:p.Gln3060Ter
ENST00000294732.11:c.4423C>T	ENSP00000294732.7:p.Gln1475Ter
ENST00000367408.5:c.2173C>T	ENSP00000356378.1:p.Gln725Ter
ENST00000367409.8:c.9178C>T	ENSP00000356379.4:p.Gln3060Ter
ENST00000612785.1:c.3136C>T	ENSP00000479244.1:p.Gln1046Ter
NM_001206846.1:c.4423C>T	NP_001193775.1:p.Gln1475Ter
NM_018136.4:c.9178C>T	NP_060606.3:p.Gln3060Ter
NM_018136.5:c.9178C>T MANE Select	NP_060606.3:p.Gln3060Ter
NM_001206846.2:c.4423C>T	NP_001193775.1:p.Gln1475Ter