Canonical Allele Identifier: CA422805296

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197070008A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100878A>T , CM000663.2:g.197100878A>T	GRCh38
NC_000001.10:g.197070008A>T , CM000663.1:g.197070008A>T	GRCh37
NC_000001.9:g.195336631A>T	NCBI36
NG_015867.1:g.50817T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-4714T>A
ENST00000367409.9:c.8373T>A MANE Select	ENSP00000356379.4:p.Gly2791=
ENST00000680265.1:c.8373T>A	ENSP00000505384.1:p.Gly2791=
ENST00000680710.1:c.8373T>A	ENSP00000506676.1:p.Gly2791=
ENST00000294732.11:c.4066-4714T>A	ENSP00000294732.7:n.4066-4714T>A
ENST00000367408.5:c.1816-4714T>A	ENSP00000356378.1:n.1816-4714T>A
ENST00000367409.8:c.8373T>A	ENSP00000356379.4:p.Gly2791=
ENST00000612785.1:c.2331T>A	ENSP00000479244.1:p.Gly777=
NM_001206846.1:c.4066-4714T>A	NP_001193775.1:n.4066-4714T>A
NM_018136.4:c.8373T>A	NP_060606.3:p.Gly2791=
NM_018136.5:c.8373T>A MANE Select	NP_060606.3:p.Gly2791=
NM_001206846.2:c.4066-4714T>A	NP_001193775.1:n.4066-4714T>A