Canonical Allele Identifier: CA344002934
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090954G>T , CM000663.2:g.197090954G>T GRCh38
NC_000001.10:g.197060084G>T , CM000663.1:g.197060084G>T GRCh37
NC_000001.9:g.195326707G>T NCBI36
NG_015867.1:g.60741C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2819C>A
ENST00000367409.9:c.9532C>A MANE Select ENSP00000356379.4:p.Leu3178Met
ENST00000680265.1:c.9754C>A ENSP00000505384.1:p.Leu3252Met
ENST00000680710.1:c.9508C>A ENSP00000506676.1:p.Leu3170Met
ENST00000294732.11:c.4777C>A ENSP00000294732.7:p.Leu1593Met
ENST00000367408.5:c.2527C>A ENSP00000356378.1:p.Leu843Met
ENST00000367409.8:c.9532C>A ENSP00000356379.4:p.Leu3178Met
ENST00000612785.1:c.3490C>A ENSP00000479244.1:p.Leu1164Met
NM_001206846.1:c.4777C>A NP_001193775.1:p.Leu1593Met
NM_018136.4:c.9532C>A NP_060606.3:p.Leu3178Met
NM_018136.5:c.9532C>A MANE Select NP_060606.3:p.Leu3178Met
NM_001206846.2:c.4777C>A NP_001193775.1:p.Leu1593Met