Canonical Allele Identifier: CA1148439237
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197100711A= , CM000663.2:g.197100711A= GRCh38
NC_000001.10:g.197069841A= , CM000663.1:g.197069841A= GRCh37
NC_000001.9:g.195336464A= NCBI36
NG_015867.1:g.50984T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-4547T=
ENST00000367409.9:c.8540T= MANE Select ENSP00000356379.4:p.Leu2847=
ENST00000680265.1:c.8540T= ENSP00000505384.1:p.Leu2847=
ENST00000680710.1:c.8540T= ENSP00000506676.1:p.Leu2847=
ENST00000294732.11:c.4066-4547T= ENSP00000294732.7:n.4066-4547T=
ENST00000367408.5:c.1816-4547T= ENSP00000356378.1:n.1816-4547T=
ENST00000367409.8:c.8540T= ENSP00000356379.4:p.Leu2847=
ENST00000612785.1:c.2498T= ENSP00000479244.1:p.Leu833=
NM_001206846.1:c.4066-4547T= NP_001193775.1:n.4066-4547T=
NM_018136.4:c.8540T= NP_060606.3:p.Leu2847=
NM_018136.5:c.8540T= MANE Select NP_060606.3:p.Leu2847=
NM_001206846.2:c.4066-4547T= NP_001193775.1:n.4066-4547T=