Canonical Allele Identifier: CA344003464
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197091002G>A , CM000663.2:g.197091002G>A GRCh38
NC_000001.10:g.197060132G>A , CM000663.1:g.197060132G>A GRCh37
NC_000001.9:g.195326755G>A NCBI36
NG_015867.1:g.60693C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2771C>T
ENST00000367409.9:c.9484C>T MANE Select ENSP00000356379.4:p.Gln3162Ter
ENST00000680265.1:c.9706C>T ENSP00000505384.1:p.Gln3236Ter
ENST00000680710.1:c.9460C>T ENSP00000506676.1:p.Gln3154Ter
ENST00000294732.11:c.4729C>T ENSP00000294732.7:p.Gln1577Ter
ENST00000367408.5:c.2479C>T ENSP00000356378.1:p.Gln827Ter
ENST00000367409.8:c.9484C>T ENSP00000356379.4:p.Gln3162Ter
ENST00000612785.1:c.3442C>T ENSP00000479244.1:p.Gln1148Ter
NM_001206846.1:c.4729C>T NP_001193775.1:p.Gln1577Ter
NM_018136.4:c.9484C>T NP_060606.3:p.Gln3162Ter
NM_018136.5:c.9484C>T MANE Select NP_060606.3:p.Gln3162Ter
NM_001206846.2:c.4729C>T NP_001193775.1:p.Gln1577Ter