Canonical Allele Identifier: CA344021818
Gene: ASPM HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197146140C>G , CM000663.2:g.197146140C>G GRCh38
NC_000001.10:g.197115270C>G , CM000663.1:g.197115270C>G GRCh37
NC_000001.9:g.195381893C>G NCBI36
NG_015867.1:g.5555G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.297+1G>C MANE Select ENSP00000356379.4:n.297+1G>C
ENST00000679766.1:n.514+1G>C
ENST00000680265.1:c.297+1G>C ENSP00000505384.1:n.297+1G>C
ENST00000680710.1:c.297+1G>C ENSP00000506676.1:n.297+1G>C
ENST00000681879.1:c.297+1G>C ENSP00000505363.1:n.297+1G>C
ENST00000294732.11:c.297+1G>C ENSP00000294732.7:n.297+1G>C
ENST00000367409.8:c.297+1G>C ENSP00000356379.4:n.297+1G>C
ENST00000612785.1:c.297+1G>C ENSP00000479244.1:n.297+1G>C
NM_001206846.1:c.297+1G>C NP_001193775.1:n.297+1G>C
NM_018136.4:c.297+1G>C NP_060606.3:n.297+1G>C
NM_018136.5:c.297+1G>C MANE Select NP_060606.3:n.297+1G>C
NM_001206846.2:c.297+1G>C NP_001193775.1:n.297+1G>C