Canonical Allele Identifier: CA344003247

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060110T>C (hg19) ; chr1:g.197090980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090980T>C , CM000663.2:g.197090980T>C	GRCh38
NC_000001.10:g.197060110T>C , CM000663.1:g.197060110T>C	GRCh37
NC_000001.9:g.195326733T>C	NCBI36
NG_015867.1:g.60715A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2793A>G
ENST00000367409.9:c.9506A>G MANE Select	ENSP00000356379.4:p.Lys3169Arg
ENST00000680265.1:c.9728A>G	ENSP00000505384.1:p.Lys3243Arg
ENST00000680710.1:c.9482A>G	ENSP00000506676.1:p.Lys3161Arg
ENST00000294732.11:c.4751A>G	ENSP00000294732.7:p.Lys1584Arg
ENST00000367408.5:c.2501A>G	ENSP00000356378.1:p.Lys834Arg
ENST00000367409.8:c.9506A>G	ENSP00000356379.4:p.Lys3169Arg
ENST00000612785.1:c.3464A>G	ENSP00000479244.1:p.Lys1155Arg
NM_001206846.1:c.4751A>G	NP_001193775.1:p.Lys1584Arg
NM_018136.4:c.9506A>G	NP_060606.3:p.Lys3169Arg
NM_018136.5:c.9506A>G MANE Select	NP_060606.3:p.Lys3169Arg
NM_001206846.2:c.4751A>G	NP_001193775.1:p.Lys1584Arg