Canonical Allele Identifier: CA1308932

Gene: ASPM

Linked Data

• dbSNP Id: rs746455693
• ExAC: 1:197060095 C / T
• gnomAD v2: 1-197060095-C-T
• gnomAD v3: 1-197090965-C-T
• gnomAD v4: 1-197090965-C-T
• MyVariant Identifiers: chr1:g.197060095C>T (hg19) ; chr1:g.197090965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090965C>T , CM000663.2:g.197090965C>T	GRCh38
NC_000001.10:g.197060095C>T , CM000663.1:g.197060095C>T	GRCh37
NC_000001.9:g.195326718C>T	NCBI36
NG_015867.1:g.60730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2808G>A
ENST00000367409.9:c.9521G>A MANE Select	ENSP00000356379.4:p.Gly3174Asp
ENST00000680265.1:c.9743G>A	ENSP00000505384.1:p.Gly3248Asp
ENST00000680710.1:c.9497G>A	ENSP00000506676.1:p.Gly3166Asp
ENST00000294732.11:c.4766G>A	ENSP00000294732.7:p.Gly1589Asp
ENST00000367408.5:c.2516G>A	ENSP00000356378.1:p.Gly839Asp
ENST00000367409.8:c.9521G>A	ENSP00000356379.4:p.Gly3174Asp
ENST00000612785.1:c.3479G>A	ENSP00000479244.1:p.Gly1160Asp
NM_001206846.1:c.4766G>A	NP_001193775.1:p.Gly1589Asp
NM_018136.4:c.9521G>A	NP_060606.3:p.Gly3174Asp
NM_018136.5:c.9521G>A MANE Select	NP_060606.3:p.Gly3174Asp
NM_001206846.2:c.4766G>A	NP_001193775.1:p.Gly1589Asp