Canonical Allele Identifier: CA35883322

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2218799
• ClinVar RCV Id: RCV002661575 ; RCV003994512
• dbSNP Id: rs965100712
• gnomAD v2: 1-197091293-T-C
• gnomAD v3: 1-197122163-T-C
• gnomAD v4: 1-197122163-T-C
• MyVariant Identifiers: chr1:g.197091293T>C (hg19) ; chr1:g.197122163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122163T>C , CM000663.2:g.197122163T>C	GRCh38
NC_000001.10:g.197091293T>C , CM000663.1:g.197091293T>C	GRCh37
NC_000001.9:g.195357916T>C	NCBI36
NG_015867.1:g.29532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1779A>G
ENST00000367409.9:c.3737A>G MANE Select	ENSP00000356379.4:p.Glu1246Gly
ENST00000680112.1:n.1793A>G
ENST00000680265.1:c.3737A>G	ENSP00000505384.1:p.Glu1246Gly
ENST00000680710.1:c.3737A>G	ENSP00000506676.1:p.Glu1246Gly
ENST00000681879.1:c.3737A>G	ENSP00000505363.1:p.Glu1246Gly
ENST00000294732.11:c.3737A>G	ENSP00000294732.7:p.Glu1246Gly
ENST00000367408.5:c.1487A>G	ENSP00000356378.1:p.Glu496Gly
ENST00000367409.8:c.3737A>G	ENSP00000356379.4:p.Glu1246Gly
ENST00000612785.1:c.562-19516A>G	ENSP00000479244.1:n.562-19516A>G
NM_001206846.1:c.3737A>G	NP_001193775.1:p.Glu1246Gly
NM_018136.4:c.3737A>G	NP_060606.3:p.Glu1246Gly
NM_018136.5:c.3737A>G MANE Select	NP_060606.3:p.Glu1246Gly
NM_001206846.2:c.3737A>G	NP_001193775.1:p.Glu1246Gly