Canonical Allele Identifier: CA1139656465

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197133607C>T , CM000663.2:g.197133607C>T	GRCh38
NC_000001.10:g.197102737C>T , CM000663.1:g.197102737C>T	GRCh37
NC_000001.9:g.195369360C>T	NCBI36
NG_015867.1:g.18088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.2174-12G>A MANE Select	ENSP00000356379.4:n.2174-12G>A
ENST00000680112.1:n.230-12G>A
ENST00000680265.1:c.2174-12G>A	ENSP00000505384.1:n.2174-12G>A
ENST00000680710.1:c.2174-12G>A	ENSP00000506676.1:n.2174-12G>A
ENST00000681879.1:c.2174-12G>A	ENSP00000505363.1:n.2174-12G>A
ENST00000294732.11:c.2174-12G>A	ENSP00000294732.7:n.2174-12G>A
ENST00000367408.5:c.-77-12G>A	ENSP00000356378.1:n.-77-12G>A
ENST00000367409.8:c.2174-12G>A	ENSP00000356379.4:n.2174-12G>A
ENST00000612785.1:c.561+10084G>A	ENSP00000479244.1:n.561+10084G>A
NM_001206846.1:c.2174-12G>A	NP_001193775.1:n.2174-12G>A
NM_018136.4:c.2174-12G>A	NP_060606.3:n.2174-12G>A
NM_018136.5:c.2174-12G>A MANE Select	NP_060606.3:n.2174-12G>A
NM_001206846.2:c.2174-12G>A	NP_001193775.1:n.2174-12G>A