Canonical Allele Identifier: CA344003063
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090966C>A , CM000663.2:g.197090966C>A GRCh38
NC_000001.10:g.197060096C>A , CM000663.1:g.197060096C>A GRCh37
NC_000001.9:g.195326719C>A NCBI36
NG_015867.1:g.60729G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2807G>T
ENST00000367409.9:c.9520G>T MANE Select ENSP00000356379.4:p.Gly3174Cys
ENST00000680265.1:c.9742G>T ENSP00000505384.1:p.Gly3248Cys
ENST00000680710.1:c.9496G>T ENSP00000506676.1:p.Gly3166Cys
ENST00000294732.11:c.4765G>T ENSP00000294732.7:p.Gly1589Cys
ENST00000367408.5:c.2515G>T ENSP00000356378.1:p.Gly839Cys
ENST00000367409.8:c.9520G>T ENSP00000356379.4:p.Gly3174Cys
ENST00000612785.1:c.3478G>T ENSP00000479244.1:p.Gly1160Cys
NM_001206846.1:c.4765G>T NP_001193775.1:p.Gly1589Cys
NM_018136.4:c.9520G>T NP_060606.3:p.Gly3174Cys
NM_018136.5:c.9520G>T MANE Select NP_060606.3:p.Gly3174Cys
NM_001206846.2:c.4765G>T NP_001193775.1:p.Gly1589Cys