Canonical Allele Identifier: CA344050315
Gene: ASPM HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197130057C>G , CM000663.2:g.197130057C>G GRCh38
NC_000001.10:g.197099187C>G , CM000663.1:g.197099187C>G GRCh37
NC_000001.9:g.195365810C>G NCBI36
NG_015867.1:g.21638G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.2488-1G>C MANE Select ENSP00000356379.4:n.2488-1G>C
ENST00000680112.1:n.544-1G>C
ENST00000680265.1:c.2488-1G>C ENSP00000505384.1:n.2488-1G>C
ENST00000680710.1:c.2488-1G>C ENSP00000506676.1:n.2488-1G>C
ENST00000681879.1:c.2488-1G>C ENSP00000505363.1:n.2488-1G>C
ENST00000294732.11:c.2488-1G>C ENSP00000294732.7:n.2488-1G>C
ENST00000367408.5:c.238-1G>C ENSP00000356378.1:n.238-1G>C
ENST00000367409.8:c.2488-1G>C ENSP00000356379.4:n.2488-1G>C
ENST00000612785.1:c.561+13634G>C ENSP00000479244.1:n.561+13634G>C
NM_001206846.1:c.2488-1G>C NP_001193775.1:n.2488-1G>C
NM_018136.4:c.2488-1G>C NP_060606.3:n.2488-1G>C
NM_018136.5:c.2488-1G>C MANE Select NP_060606.3:n.2488-1G>C
NM_001206846.2:c.2488-1G>C NP_001193775.1:n.2488-1G>C