Canonical Allele Identifier: CA422672497
Gene: ASPM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197060169T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197091039T>C , CM000663.2:g.197091039T>C GRCh38
NC_000001.10:g.197060169T>C , CM000663.1:g.197060169T>C GRCh37
NC_000001.9:g.195326792T>C NCBI36
NG_015867.1:g.60656A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2734A>G
ENST00000367409.9:c.9447A>G MANE Select ENSP00000356379.4:p.Arg3149=
ENST00000680265.1:c.9669A>G ENSP00000505384.1:p.Arg3223=
ENST00000680710.1:c.9423A>G ENSP00000506676.1:p.Arg3141=
ENST00000294732.11:c.4692A>G ENSP00000294732.7:p.Arg1564=
ENST00000367408.5:c.2442A>G ENSP00000356378.1:p.Arg814=
ENST00000367409.8:c.9447A>G ENSP00000356379.4:p.Arg3149=
ENST00000612785.1:c.3405A>G ENSP00000479244.1:p.Arg1135=
NM_001206846.1:c.4692A>G NP_001193775.1:p.Arg1564=
NM_018136.4:c.9447A>G NP_060606.3:p.Arg3149=
NM_018136.5:c.9447A>G MANE Select NP_060606.3:p.Arg3149=
NM_001206846.2:c.4692A>G NP_001193775.1:p.Arg1564=