Canonical Allele Identifier: CA343998399
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088369A>T , CM000663.2:g.197088369A>T GRCh38
NC_000001.10:g.197057499A>T , CM000663.1:g.197057499A>T GRCh37
NC_000001.9:g.195324122A>T NCBI36
NG_015867.1:g.63326T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3335T>A
ENST00000367409.9:c.10048T>A MANE Select ENSP00000356379.4:p.Leu3350Met
ENST00000680265.1:c.10270T>A ENSP00000505384.1:p.Leu3424Met
ENST00000680710.1:c.10024T>A ENSP00000506676.1:p.Leu3342Met
ENST00000294732.11:c.5293T>A ENSP00000294732.7:p.Leu1765Met
ENST00000367408.5:c.3043T>A ENSP00000356378.1:p.Leu1015Met
ENST00000367409.8:c.10048T>A ENSP00000356379.4:p.Leu3350Met
ENST00000612785.1:c.4006T>A ENSP00000479244.1:p.Leu1336Met
NM_001206846.1:c.5293T>A NP_001193775.1:p.Leu1765Met
NM_018136.4:c.10048T>A NP_060606.3:p.Leu3350Met
NM_018136.5:c.10048T>A MANE Select NP_060606.3:p.Leu3350Met
NM_001206846.2:c.5293T>A NP_001193775.1:p.Leu1765Met