Canonical Allele Identifier: CA344003105

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060099C>T (hg19) ; chr1:g.197090969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090969C>T , CM000663.2:g.197090969C>T	GRCh38
NC_000001.10:g.197060099C>T , CM000663.1:g.197060099C>T	GRCh37
NC_000001.9:g.195326722C>T	NCBI36
NG_015867.1:g.60726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2804G>A
ENST00000367409.9:c.9517G>A MANE Select	ENSP00000356379.4:p.Glu3173Lys
ENST00000680265.1:c.9739G>A	ENSP00000505384.1:p.Glu3247Lys
ENST00000680710.1:c.9493G>A	ENSP00000506676.1:p.Glu3165Lys
ENST00000294732.11:c.4762G>A	ENSP00000294732.7:p.Glu1588Lys
ENST00000367408.5:c.2512G>A	ENSP00000356378.1:p.Glu838Lys
ENST00000367409.8:c.9517G>A	ENSP00000356379.4:p.Glu3173Lys
ENST00000612785.1:c.3475G>A	ENSP00000479244.1:p.Glu1159Lys
NM_001206846.1:c.4762G>A	NP_001193775.1:p.Glu1588Lys
NM_018136.4:c.9517G>A	NP_060606.3:p.Glu3173Lys
NM_018136.5:c.9517G>A MANE Select	NP_060606.3:p.Glu3173Lys
NM_001206846.2:c.4762G>A	NP_001193775.1:p.Glu1588Lys