Canonical Allele Identifier: CA344022570
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197102668G>T , CM000663.2:g.197102668G>T GRCh38
NC_000001.10:g.197071798G>T , CM000663.1:g.197071798G>T GRCh37
NC_000001.9:g.195338421G>T NCBI36
NG_015867.1:g.49027C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-6504C>A
ENST00000367409.9:c.6583C>A MANE Select ENSP00000356379.4:p.Leu2195Ile
ENST00000680265.1:c.6583C>A ENSP00000505384.1:p.Leu2195Ile
ENST00000680710.1:c.6583C>A ENSP00000506676.1:p.Leu2195Ile
ENST00000294732.11:c.4066-6504C>A ENSP00000294732.7:n.4066-6504C>A
ENST00000367408.5:c.1816-6504C>A ENSP00000356378.1:n.1816-6504C>A
ENST00000367409.8:c.6583C>A ENSP00000356379.4:p.Leu2195Ile
ENST00000612785.1:c.562-21C>A ENSP00000479244.1:n.562-21C>A
NM_001206846.1:c.4066-6504C>A NP_001193775.1:n.4066-6504C>A
NM_018136.4:c.6583C>A NP_060606.3:p.Leu2195Ile
NM_018136.5:c.6583C>A MANE Select NP_060606.3:p.Leu2195Ile
NM_001206846.2:c.4066-6504C>A NP_001193775.1:n.4066-6504C>A