Canonical Allele Identifier: CA1143699290
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197128565A= , CM000663.2:g.197128565A= GRCh38
NC_000001.10:g.197097695A= , CM000663.1:g.197097695A= GRCh37
NC_000001.9:g.195364318A= NCBI36
NG_015867.1:g.23130T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.813T=
ENST00000367409.9:c.2861T= MANE Select ENSP00000356379.4:p.Val954=
ENST00000680112.1:n.917T=
ENST00000680265.1:c.2861T= ENSP00000505384.1:p.Val954=
ENST00000680710.1:c.2861T= ENSP00000506676.1:p.Val954=
ENST00000681879.1:c.2861T= ENSP00000505363.1:p.Val954=
ENST00000294732.11:c.2861T= ENSP00000294732.7:p.Val954=
ENST00000367408.5:c.611T= ENSP00000356378.1:p.Val204=
ENST00000367409.8:c.2861T= ENSP00000356379.4:p.Val954=
ENST00000612785.1:c.561+15126T= ENSP00000479244.1:n.561+15126T=
NM_001206846.1:c.2861T= NP_001193775.1:p.Val954=
NM_018136.4:c.2861T= NP_060606.3:p.Val954=
NM_018136.5:c.2861T= MANE Select NP_060606.3:p.Val954=
NM_001206846.2:c.2861T= NP_001193775.1:p.Val954=