Canonical Allele Identifier: CA344015922
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142753C>A , CM000663.2:g.197142753C>A GRCh38
NC_000001.10:g.197111883C>A , CM000663.1:g.197111883C>A GRCh37
NC_000001.9:g.195378506C>A NCBI36
NG_015867.1:g.8942G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1499G>T MANE Select ENSP00000356379.4:p.Arg500Met
ENST00000679766.1:n.1716G>T
ENST00000680265.1:c.1499G>T ENSP00000505384.1:p.Arg500Met
ENST00000680710.1:c.1499G>T ENSP00000506676.1:p.Arg500Met
ENST00000681879.1:c.1499G>T ENSP00000505363.1:p.Arg500Met
ENST00000294732.11:c.1499G>T ENSP00000294732.7:p.Arg500Met
ENST00000367409.8:c.1499G>T ENSP00000356379.4:p.Arg500Met
ENST00000612785.1:c.561+938G>T ENSP00000479244.1:n.561+938G>T
NM_001206846.1:c.1499G>T NP_001193775.1:p.Arg500Met
NM_018136.4:c.1499G>T NP_060606.3:p.Arg500Met
NM_018136.5:c.1499G>T MANE Select NP_060606.3:p.Arg500Met
NM_001206846.2:c.1499G>T NP_001193775.1:p.Arg500Met