Canonical Allele Identifier: CA422672495

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197060162G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197091032G>T , CM000663.2:g.197091032G>T	GRCh38
NC_000001.10:g.197060162G>T , CM000663.1:g.197060162G>T	GRCh37
NC_000001.9:g.195326785G>T	NCBI36
NG_015867.1:g.60663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2741C>A
ENST00000367409.9:c.9454C>A MANE Select	ENSP00000356379.4:p.Arg3152=
ENST00000680265.1:c.9676C>A	ENSP00000505384.1:p.Arg3226=
ENST00000680710.1:c.9430C>A	ENSP00000506676.1:p.Arg3144=
ENST00000294732.11:c.4699C>A	ENSP00000294732.7:p.Arg1567=
ENST00000367408.5:c.2449C>A	ENSP00000356378.1:p.Arg817=
ENST00000367409.8:c.9454C>A	ENSP00000356379.4:p.Arg3152=
ENST00000612785.1:c.3412C>A	ENSP00000479244.1:p.Arg1138=
NM_001206846.1:c.4699C>A	NP_001193775.1:p.Arg1567=
NM_018136.4:c.9454C>A	NP_060606.3:p.Arg3152=
NM_018136.5:c.9454C>A MANE Select	NP_060606.3:p.Arg3152=
NM_001206846.2:c.4699C>A	NP_001193775.1:p.Arg1567=