Canonical Allele Identifier: CA10605290

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197096156C>T , CM000663.2:g.197096156C>T	GRCh38
NC_000001.10:g.197065286C>T , CM000663.1:g.197065286C>T	GRCh37
NC_000001.9:g.195331909C>T	NCBI36
NG_015867.1:g.55539G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.8829G>A MANE Select	NP_060606.3:p.Trp2943Ter
ENST00000367409.9:c.8829G>A MANE Select	ENSP00000356379.4:p.Trp2943Ter
NM_001206846.1:c.4074G>A	NP_001193775.1:p.Trp1358Ter
NM_001206846.2:c.4074G>A	NP_001193775.1:p.Trp1358Ter
NM_018136.4:c.8829G>A	NP_060606.3:p.Trp2943Ter
ENST00000294732.11:c.4074G>A	ENSP00000294732.7:p.Trp1358Ter
ENST00000367408.5:c.1824G>A	ENSP00000356378.1:p.Trp608Ter
ENST00000367408.6:n.2116G>A
ENST00000367409.8:c.8829G>A	ENSP00000356379.4:p.Trp2943Ter
ENST00000612785.1:c.2787G>A	ENSP00000479244.1:p.Trp929Ter
ENST00000680265.1:c.9051G>A	ENSP00000505384.1:p.Trp3017Ter
ENST00000680710.1:c.8829G>A	ENSP00000506676.1:p.Trp2943Ter