Canonical Allele Identifier: CA1310503

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197133494G>A , CM000663.2:g.197133494G>A	GRCh38
NC_000001.10:g.197102624G>A , CM000663.1:g.197102624G>A	GRCh37
NC_000001.9:g.195369247G>A	NCBI36
NG_015867.1:g.18201C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.2275C>T MANE Select	NP_060606.3:p.Arg759Trp
ENST00000367409.9:c.2275C>T MANE Select	ENSP00000356379.4:p.Arg759Trp
NM_001206846.1:c.2275C>T	NP_001193775.1:p.Arg759Trp
NM_001206846.2:c.2275C>T	NP_001193775.1:p.Arg759Trp
NM_018136.4:c.2275C>T	NP_060606.3:p.Arg759Trp
ENST00000294732.11:c.2275C>T	ENSP00000294732.7:p.Arg759Trp
ENST00000367408.5:c.25C>T	ENSP00000356378.1:p.Arg9Trp
ENST00000367409.8:c.2275C>T	ENSP00000356379.4:p.Arg759Trp
ENST00000612785.1:c.561+10197C>T	ENSP00000479244.1:n.561+10197C>T
ENST00000680112.1:n.331C>T
ENST00000680265.1:c.2275C>T	ENSP00000505384.1:p.Arg759Trp
ENST00000680710.1:c.2275C>T	ENSP00000506676.1:p.Arg759Trp
ENST00000681879.1:c.2275C>T	ENSP00000505363.1:p.Arg759Trp