Canonical Allele Identifier: CA1308922

Gene: ASPM

Linked Data

• dbSNP Id: rs763141390
• ExAC: 1:197060051 G / C
• gnomAD v2: 1-197060051-G-C
• gnomAD v4: 1-197090921-G-C
• MyVariant Identifiers: chr1:g.197060051G>C (hg19) ; chr1:g.197090921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090921G>C , CM000663.2:g.197090921G>C	GRCh38
NC_000001.10:g.197060051G>C , CM000663.1:g.197060051G>C	GRCh37
NC_000001.9:g.195326674G>C	NCBI36
NG_015867.1:g.60774C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2852C>G
ENST00000367409.9:c.9565C>G MANE Select	ENSP00000356379.4:p.Gln3189Glu
ENST00000680265.1:c.9787C>G	ENSP00000505384.1:p.Gln3263Glu
ENST00000680710.1:c.9541C>G	ENSP00000506676.1:p.Gln3181Glu
ENST00000294732.11:c.4810C>G	ENSP00000294732.7:p.Gln1604Glu
ENST00000367408.5:c.2560C>G	ENSP00000356378.1:p.Gln854Glu
ENST00000367409.8:c.9565C>G	ENSP00000356379.4:p.Gln3189Glu
ENST00000612785.1:c.3523C>G	ENSP00000479244.1:p.Gln1175Glu
NM_001206846.1:c.4810C>G	NP_001193775.1:p.Gln1604Glu
NM_018136.4:c.9565C>G	NP_060606.3:p.Gln3189Glu
NM_018136.5:c.9565C>G MANE Select	NP_060606.3:p.Gln3189Glu
NM_001206846.2:c.4810C>G	NP_001193775.1:p.Gln1604Glu