Canonical Allele Identifier: CA344001035

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090040G>A , CM000663.2:g.197090040G>A	GRCh38
NC_000001.10:g.197059170G>A , CM000663.1:g.197059170G>A	GRCh37
NC_000001.9:g.195325793G>A	NCBI36
NG_015867.1:g.61655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3161C>T
ENST00000367409.9:c.9874C>T MANE Select	ENSP00000356379.4:p.Gln3292Ter
ENST00000680265.1:c.10096C>T	ENSP00000505384.1:p.Gln3366Ter
ENST00000680710.1:c.9850C>T	ENSP00000506676.1:p.Gln3284Ter
ENST00000294732.11:c.5119C>T	ENSP00000294732.7:p.Gln1707Ter
ENST00000367408.5:c.2869C>T	ENSP00000356378.1:p.Gln957Ter
ENST00000367409.8:c.9874C>T	ENSP00000356379.4:p.Gln3292Ter
ENST00000612785.1:c.3832C>T	ENSP00000479244.1:p.Gln1278Ter
NM_001206846.1:c.5119C>T	NP_001193775.1:p.Gln1707Ter
NM_018136.4:c.9874C>T	NP_060606.3:p.Gln3292Ter
NM_018136.5:c.9874C>T MANE Select	NP_060606.3:p.Gln3292Ter
NM_001206846.2:c.5119C>T	NP_001193775.1:p.Gln1707Ter