Canonical Allele Identifier: CA422672143
Gene: ASPM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197057392T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197088262T>C , CM000663.2:g.197088262T>C GRCh38
NC_000001.10:g.197057392T>C , CM000663.1:g.197057392T>C GRCh37
NC_000001.9:g.195324015T>C NCBI36
NG_015867.1:g.63433A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3442A>G
ENST00000367409.9:c.10155A>G MANE Select ENSP00000356379.4:p.Arg3385=
ENST00000680265.1:c.10377A>G ENSP00000505384.1:p.Arg3459=
ENST00000680710.1:c.10131A>G ENSP00000506676.1:p.Arg3377=
ENST00000294732.11:c.5400A>G ENSP00000294732.7:p.Arg1800=
ENST00000367408.5:c.3150A>G ENSP00000356378.1:p.Arg1050=
ENST00000367409.8:c.10155A>G ENSP00000356379.4:p.Arg3385=
ENST00000612785.1:c.4113A>G ENSP00000479244.1:p.Arg1371=
NM_001206846.1:c.5400A>G NP_001193775.1:p.Arg1800=
NM_018136.4:c.10155A>G NP_060606.3:p.Arg3385=
NM_018136.5:c.10155A>G MANE Select NP_060606.3:p.Arg3385=
NM_001206846.2:c.5400A>G NP_001193775.1:p.Arg1800=