Canonical Allele Identifier: CA1310078
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 294635
dbSNP Id: rs150125249

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197121994C>T , CM000663.2:g.197121994C>T GRCh38
NC_000001.10:g.197091124C>T , CM000663.1:g.197091124C>T GRCh37
NC_000001.9:g.195357747C>T NCBI36
NG_015867.1:g.29701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.1833G>A
ENST00000367409.9:c.3791G>A MANE Select ENSP00000356379.4:p.Arg1264His
ENST00000680112.1:n.1847G>A
ENST00000680265.1:c.3791G>A ENSP00000505384.1:p.Arg1264His
ENST00000680710.1:c.3791G>A ENSP00000506676.1:p.Arg1264His
ENST00000681879.1:c.3791G>A ENSP00000505363.1:p.Arg1264His
ENST00000294732.11:c.3791G>A ENSP00000294732.7:p.Arg1264His
ENST00000367408.5:c.1541G>A ENSP00000356378.1:p.Arg514His
ENST00000367409.8:c.3791G>A ENSP00000356379.4:p.Arg1264His
ENST00000612785.1:c.562-19347G>A ENSP00000479244.1:n.562-19347G>A
NM_001206846.1:c.3791G>A NP_001193775.1:p.Arg1264His
NM_018136.4:c.3791G>A NP_060606.3:p.Arg1264His
NM_018136.5:c.3791G>A MANE Select NP_060606.3:p.Arg1264His
NM_001206846.2:c.3791G>A NP_001193775.1:p.Arg1264His