Canonical Allele Identifier: CA422672213

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057503C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088373C>T , CM000663.2:g.197088373C>T	GRCh38
NC_000001.10:g.197057503C>T , CM000663.1:g.197057503C>T	GRCh37
NC_000001.9:g.195324126C>T	NCBI36
NG_015867.1:g.63322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3331G>A
ENST00000367409.9:c.10044G>A MANE Select	ENSP00000356379.4:p.Glu3348=
ENST00000680265.1:c.10266G>A	ENSP00000505384.1:p.Glu3422=
ENST00000680710.1:c.10020G>A	ENSP00000506676.1:p.Glu3340=
ENST00000294732.11:c.5289G>A	ENSP00000294732.7:p.Glu1763=
ENST00000367408.5:c.3039G>A	ENSP00000356378.1:p.Glu1013=
ENST00000367409.8:c.10044G>A	ENSP00000356379.4:p.Glu3348=
ENST00000612785.1:c.4002G>A	ENSP00000479244.1:p.Glu1334=
NM_001206846.1:c.5289G>A	NP_001193775.1:p.Glu1763=
NM_018136.4:c.10044G>A	NP_060606.3:p.Glu3348=
NM_018136.5:c.10044G>A MANE Select	NP_060606.3:p.Glu3348=
NM_001206846.2:c.5289G>A	NP_001193775.1:p.Glu1763=