Canonical Allele Identifier: CA1217931271
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197105071G= , CM000663.2:g.197105071G= GRCh38
NC_000001.10:g.197074201G= , CM000663.1:g.197074201G= GRCh37
NC_000001.9:g.195340824G= NCBI36
NG_015867.1:g.46624C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-8907C=
ENST00000367409.9:c.4180C= MANE Select ENSP00000356379.4:p.Leu1394=
ENST00000680265.1:c.4180C= ENSP00000505384.1:p.Leu1394=
ENST00000680710.1:c.4180C= ENSP00000506676.1:p.Leu1394=
ENST00000681879.1:c.4228C= ENSP00000505363.1:n.4228C=
ENST00000294732.11:c.4066-8907C= ENSP00000294732.7:n.4066-8907C=
ENST00000367408.5:c.1816-8907C= ENSP00000356378.1:n.1816-8907C=
ENST00000367409.8:c.4180C= ENSP00000356379.4:p.Leu1394=
ENST00000612785.1:c.562-2424C= ENSP00000479244.1:n.562-2424C=
NM_001206846.1:c.4066-8907C= NP_001193775.1:n.4066-8907C=
NM_018136.4:c.4180C= NP_060606.3:p.Leu1394=
NM_018136.5:c.4180C= MANE Select NP_060606.3:p.Leu1394=
NM_001206846.2:c.4066-8907C= NP_001193775.1:n.4066-8907C=