Canonical Allele Identifier: CA1308881

Gene: ASPM

Linked Data

• ClinVar Variation Id: 434404
• ClinVar RCV Id: RCV000503336 ; RCV000727279 ; RCV001099802 ; RCV003258831
• dbSNP Id: rs142901223
• ExAC: 1:197059479 A / C
• gnomAD v2: 1-197059479-A-C
• gnomAD v3: 1-197090349-A-C
• gnomAD v4: 1-197090349-A-C
• MyVariant Identifiers: chr1:g.197059479A>C (hg19) ; chr1:g.197090349A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090349A>C , CM000663.2:g.197090349A>C	GRCh38
NC_000001.10:g.197059479A>C , CM000663.1:g.197059479A>C	GRCh37
NC_000001.9:g.195326102A>C	NCBI36
NG_015867.1:g.61346T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2963T>G
ENST00000367409.9:c.9676T>G MANE Select	ENSP00000356379.4:p.Cys3226Gly
ENST00000680265.1:c.9898T>G	ENSP00000505384.1:p.Cys3300Gly
ENST00000680710.1:c.9652T>G	ENSP00000506676.1:p.Cys3218Gly
ENST00000294732.11:c.4921T>G	ENSP00000294732.7:p.Cys1641Gly
ENST00000367408.5:c.2671T>G	ENSP00000356378.1:p.Cys891Gly
ENST00000367409.8:c.9676T>G	ENSP00000356379.4:p.Cys3226Gly
ENST00000612785.1:c.3634T>G	ENSP00000479244.1:p.Cys1212Gly
NM_001206846.1:c.4921T>G	NP_001193775.1:p.Cys1641Gly
NM_018136.4:c.9676T>G	NP_060606.3:p.Cys3226Gly
NM_018136.5:c.9676T>G MANE Select	NP_060606.3:p.Cys3226Gly
NM_001206846.2:c.4921T>G	NP_001193775.1:p.Cys1641Gly