Canonical Allele Identifier: CA422672498
Gene: ASPM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.197060171T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197091041T>G , CM000663.2:g.197091041T>G GRCh38
NC_000001.10:g.197060171T>G , CM000663.1:g.197060171T>G GRCh37
NC_000001.9:g.195326794T>G NCBI36
NG_015867.1:g.60654A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2732A>C
ENST00000367409.9:c.9445A>C MANE Select ENSP00000356379.4:p.Arg3149=
ENST00000680265.1:c.9667A>C ENSP00000505384.1:p.Arg3223=
ENST00000680710.1:c.9421A>C ENSP00000506676.1:p.Arg3141=
ENST00000294732.11:c.4690A>C ENSP00000294732.7:p.Arg1564=
ENST00000367408.5:c.2440A>C ENSP00000356378.1:p.Arg814=
ENST00000367409.8:c.9445A>C ENSP00000356379.4:p.Arg3149=
ENST00000612785.1:c.3403A>C ENSP00000479244.1:p.Arg1135=
NM_001206846.1:c.4690A>C NP_001193775.1:p.Arg1564=
NM_018136.4:c.9445A>C NP_060606.3:p.Arg3149=
NM_018136.5:c.9445A>C MANE Select NP_060606.3:p.Arg3149=
NM_001206846.2:c.4690A>C NP_001193775.1:p.Arg1564=