Canonical Allele Identifier: CA2508693544

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090135T>C , CM000663.2:g.197090135T>C	GRCh38
NC_000001.10:g.197059265T>C , CM000663.1:g.197059265T>C	GRCh37
NC_000001.9:g.195325888T>C	NCBI36
NG_015867.1:g.61560A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.3117-51A>G
ENST00000367409.9:c.9830-51A>G MANE Select	ENSP00000356379.4:n.9830-51A>G
ENST00000680265.1:c.10052-51A>G	ENSP00000505384.1:n.10052-51A>G
ENST00000680710.1:c.9806-51A>G	ENSP00000506676.1:n.9806-51A>G
ENST00000294732.11:c.5075-51A>G	ENSP00000294732.7:n.5075-51A>G
ENST00000367408.5:c.2825-51A>G	ENSP00000356378.1:n.2825-51A>G
ENST00000367409.8:c.9830-51A>G	ENSP00000356379.4:n.9830-51A>G
ENST00000612785.1:c.3788-51A>G	ENSP00000479244.1:n.3788-51A>G
NM_001206846.1:c.5075-51A>G	NP_001193775.1:n.5075-51A>G
NM_018136.4:c.9830-51A>G	NP_060606.3:n.9830-51A>G
NM_018136.5:c.9830-51A>G MANE Select	NP_060606.3:n.9830-51A>G
NM_001206846.2:c.5075-51A>G	NP_001193775.1:n.5075-51A>G