Canonical Allele Identifier: CA422672229
Gene: ASPM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197057533A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088403A>G , CM000663.2:g.197088403A>G GRCh38
NC_000001.10:g.197057533A>G , CM000663.1:g.197057533A>G GRCh37
NC_000001.9:g.195324156A>G NCBI36
NG_015867.1:g.63292T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3301T>C
ENST00000367409.9:c.10014T>C MANE Select ENSP00000356379.4:p.Asp3338=
ENST00000680265.1:c.10236T>C ENSP00000505384.1:p.Asp3412=
ENST00000680710.1:c.9990T>C ENSP00000506676.1:p.Asp3330=
ENST00000294732.11:c.5259T>C ENSP00000294732.7:p.Asp1753=
ENST00000367408.5:c.3009T>C ENSP00000356378.1:p.Asp1003=
ENST00000367409.8:c.10014T>C ENSP00000356379.4:p.Asp3338=
ENST00000612785.1:c.3972T>C ENSP00000479244.1:p.Asp1324=
NM_001206846.1:c.5259T>C NP_001193775.1:p.Asp1753=
NM_018136.4:c.10014T>C NP_060606.3:p.Asp3338=
NM_018136.5:c.10014T>C MANE Select NP_060606.3:p.Asp3338=
NM_001206846.2:c.5259T>C NP_001193775.1:p.Asp1753=