Canonical Allele Identifier: CA344007229

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093168G>C , CM000663.2:g.197093168G>C	GRCh38
NC_000001.10:g.197062298G>C , CM000663.1:g.197062298G>C	GRCh37
NC_000001.9:g.195328921G>C	NCBI36
NG_015867.1:g.58527C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2465C>G
ENST00000367409.9:c.9178C>G MANE Select	ENSP00000356379.4:p.Gln3060Glu
ENST00000680265.1:c.9400C>G	ENSP00000505384.1:p.Gln3134Glu
ENST00000680710.1:c.9178C>G	ENSP00000506676.1:p.Gln3060Glu
ENST00000294732.11:c.4423C>G	ENSP00000294732.7:p.Gln1475Glu
ENST00000367408.5:c.2173C>G	ENSP00000356378.1:p.Gln725Glu
ENST00000367409.8:c.9178C>G	ENSP00000356379.4:p.Gln3060Glu
ENST00000612785.1:c.3136C>G	ENSP00000479244.1:p.Gln1046Glu
NM_001206846.1:c.4423C>G	NP_001193775.1:p.Gln1475Glu
NM_018136.4:c.9178C>G	NP_060606.3:p.Gln3060Glu
NM_018136.5:c.9178C>G MANE Select	NP_060606.3:p.Gln3060Glu
NM_001206846.2:c.4423C>G	NP_001193775.1:p.Gln1475Glu