Canonical Allele Identifier: CA342233
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21570
dbSNP Id: rs199422152

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197125161C>T , CM000663.2:g.197125161C>T GRCh38
NC_000001.10:g.197094291C>T , CM000663.1:g.197094291C>T GRCh37
NC_000001.9:g.195360914C>T NCBI36
NG_015867.1:g.26534G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.919G>A
ENST00000367409.9:c.2967G>A MANE Select ENSP00000356379.4:p.Trp989Ter
ENST00000680112.1:n.1023G>A
ENST00000680265.1:c.2967G>A ENSP00000505384.1:p.Trp989Ter
ENST00000680710.1:c.2967G>A ENSP00000506676.1:p.Trp989Ter
ENST00000681879.1:c.2967G>A ENSP00000505363.1:p.Trp989Ter
ENST00000294732.11:c.2967G>A ENSP00000294732.7:p.Trp989Ter
ENST00000367408.5:c.717G>A ENSP00000356378.1:p.Trp239Ter
ENST00000367409.8:c.2967G>A ENSP00000356379.4:p.Trp989Ter
ENST00000612785.1:c.561+18530G>A ENSP00000479244.1:n.561+18530G>A
NM_001206846.1:c.2967G>A NP_001193775.1:p.Trp989Ter
NM_018136.4:c.2967G>A NP_060606.3:p.Trp989Ter
NM_018136.5:c.2967G>A MANE Select NP_060606.3:p.Trp989Ter
NM_001206846.2:c.2967G>A NP_001193775.1:p.Trp989Ter