Canonical Allele Identifier: CA344003436

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060129T>C (hg19) ; chr1:g.197090999T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090999T>C , CM000663.2:g.197090999T>C	GRCh38
NC_000001.10:g.197060129T>C , CM000663.1:g.197060129T>C	GRCh37
NC_000001.9:g.195326752T>C	NCBI36
NG_015867.1:g.60696A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2774A>G
ENST00000367409.9:c.9487A>G MANE Select	ENSP00000356379.4:p.Lys3163Glu
ENST00000680265.1:c.9709A>G	ENSP00000505384.1:p.Lys3237Glu
ENST00000680710.1:c.9463A>G	ENSP00000506676.1:p.Lys3155Glu
ENST00000294732.11:c.4732A>G	ENSP00000294732.7:p.Lys1578Glu
ENST00000367408.5:c.2482A>G	ENSP00000356378.1:p.Lys828Glu
ENST00000367409.8:c.9487A>G	ENSP00000356379.4:p.Lys3163Glu
ENST00000612785.1:c.3445A>G	ENSP00000479244.1:p.Lys1149Glu
NM_001206846.1:c.4732A>G	NP_001193775.1:p.Lys1578Glu
NM_018136.4:c.9487A>G	NP_060606.3:p.Lys3163Glu
NM_018136.5:c.9487A>G MANE Select	NP_060606.3:p.Lys3163Glu
NM_001206846.2:c.4732A>G	NP_001193775.1:p.Lys1578Glu