Canonical Allele Identifier: CA1217930948
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104133T= , CM000663.2:g.197104133T= GRCh38
NC_000001.10:g.197073263T= , CM000663.1:g.197073263T= GRCh37
NC_000001.9:g.195339886T= NCBI36
NG_015867.1:g.47562A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-7969A=
ENST00000367409.9:c.5118A= MANE Select ENSP00000356379.4:p.Leu1706=
ENST00000680265.1:c.5118A= ENSP00000505384.1:p.Leu1706=
ENST00000680710.1:c.5118A= ENSP00000506676.1:p.Leu1706=
ENST00000294732.11:c.4066-7969A= ENSP00000294732.7:n.4066-7969A=
ENST00000367408.5:c.1816-7969A= ENSP00000356378.1:n.1816-7969A=
ENST00000367409.8:c.5118A= ENSP00000356379.4:p.Leu1706=
ENST00000612785.1:c.562-1486A= ENSP00000479244.1:n.562-1486A=
NM_001206846.1:c.4066-7969A= NP_001193775.1:n.4066-7969A=
NM_018136.4:c.5118A= NP_060606.3:p.Leu1706=
NM_018136.5:c.5118A= MANE Select NP_060606.3:p.Leu1706=
NM_001206846.2:c.4066-7969A= NP_001193775.1:n.4066-7969A=