Canonical Allele Identifier: CA2649660440
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088441G>T , CM000663.2:g.197088441G>T GRCh38
NC_000001.10:g.197057571G>T , CM000663.1:g.197057571G>T GRCh37
NC_000001.9:g.195324194G>T NCBI36
NG_015867.1:g.63254C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3272-9C>A
ENST00000367409.9:c.9985-9C>A MANE Select ENSP00000356379.4:n.9985-9C>A
ENST00000680265.1:c.10207-9C>A ENSP00000505384.1:n.10207-9C>A
ENST00000680710.1:c.9961-9C>A ENSP00000506676.1:n.9961-9C>A
ENST00000294732.11:c.5230-9C>A ENSP00000294732.7:n.5230-9C>A
ENST00000367408.5:c.2980-9C>A ENSP00000356378.1:n.2980-9C>A
ENST00000367409.8:c.9985-9C>A ENSP00000356379.4:n.9985-9C>A
ENST00000612785.1:c.3943-9C>A ENSP00000479244.1:n.3943-9C>A
NM_001206846.1:c.5230-9C>A NP_001193775.1:n.5230-9C>A
NM_018136.4:c.9985-9C>A NP_060606.3:n.9985-9C>A
NM_018136.5:c.9985-9C>A MANE Select NP_060606.3:n.9985-9C>A
NM_001206846.2:c.5230-9C>A NP_001193775.1:n.5230-9C>A