Canonical Allele Identifier: CA344036191

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117815G>A , CM000663.2:g.197117815G>A	GRCh38
NC_000001.10:g.197086945G>A , CM000663.1:g.197086945G>A	GRCh37
NC_000001.9:g.195353568G>A	NCBI36
NG_015867.1:g.33880C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.4039C>T MANE Select	NP_060606.3:p.Gln1347Ter
ENST00000367409.9:c.4039C>T MANE Select	ENSP00000356379.4:p.Gln1347Ter
NM_001206846.1:c.4039C>T	NP_001193775.1:p.Gln1347Ter
NM_001206846.2:c.4039C>T	NP_001193775.1:p.Gln1347Ter
NM_018136.4:c.4039C>T	NP_060606.3:p.Gln1347Ter
ENST00000294732.11:c.4039C>T	ENSP00000294732.7:p.Gln1347Ter
ENST00000367408.5:c.1789C>T	ENSP00000356378.1:p.Gln597Ter
ENST00000367408.6:n.2081C>T
ENST00000367409.8:c.4039C>T	ENSP00000356379.4:p.Gln1347Ter
ENST00000612785.1:c.562-15168C>T	ENSP00000479244.1:n.562-15168C>T
ENST00000680265.1:c.4039C>T	ENSP00000505384.1:p.Gln1347Ter
ENST00000680710.1:c.4039C>T	ENSP00000506676.1:p.Gln1347Ter
ENST00000681879.1:c.4087C>T	ENSP00000505363.1:n.4087C>T