Canonical Allele Identifier: CA171275

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093070A>G , CM000663.2:g.197093070A>G	GRCh38
NC_000001.10:g.197062200A>G , CM000663.1:g.197062200A>G	GRCh37
NC_000001.9:g.195328823A>G	NCBI36
NG_015867.1:g.58625T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.9276T>C MANE Select	NP_060606.3:p.Gly3092=
ENST00000367409.9:c.9276T>C MANE Select	ENSP00000356379.4:p.Gly3092=
NM_001206846.1:c.4521T>C	NP_001193775.1:p.Gly1507=
NM_001206846.2:c.4521T>C	NP_001193775.1:p.Gly1507=
NM_018136.4:c.9276T>C	NP_060606.3:p.Gly3092=
ENST00000294732.11:c.4521T>C	ENSP00000294732.7:p.Gly1507=
ENST00000367408.5:c.2271T>C	ENSP00000356378.1:p.Gly757=
ENST00000367408.6:n.2563T>C
ENST00000367409.8:c.9276T>C	ENSP00000356379.4:p.Gly3092=
ENST00000612785.1:c.3234T>C	ENSP00000479244.1:p.Gly1078=
ENST00000680265.1:c.9498T>C	ENSP00000505384.1:p.Gly3166=
ENST00000680710.1:c.9276T>C	ENSP00000506676.1:p.Gly3092=