Canonical Allele Identifier: CA1217930385

Gene: ASPM

Linked Data

• dbSNP Id: rs1657236806

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102667dup , CM000663.2:g.197102667dup	GRCh38
NC_000001.10:g.197071797dup , CM000663.1:g.197071797dup	GRCh37
NC_000001.9:g.195338420dup	NCBI36
NG_015867.1:g.49028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6503dup
ENST00000367409.9:c.6584dup MANE Select	ENSP00000356379.4:p.Ile2196HisfsTer15
ENST00000680265.1:c.6584dup	ENSP00000505384.1:p.Ile2196HisfsTer15
ENST00000680710.1:c.6584dup	ENSP00000506676.1:p.Ile2196HisfsTer15
ENST00000294732.11:c.4066-6503dup	ENSP00000294732.7:n.4066-6503dup
ENST00000367408.5:c.1816-6503dup	ENSP00000356378.1:n.1816-6503dup
ENST00000367409.8:c.6584dup	ENSP00000356379.4:p.Ile2196HisfsTer15
ENST00000612785.1:c.562-20dup	ENSP00000479244.1:n.562-20dup
NM_001206846.1:c.4066-6503dup	NP_001193775.1:n.4066-6503dup
NM_018136.4:c.6584dup	NP_060606.3:p.Ile2196HisfsTer15
NM_018136.5:c.6584dup MANE Select	NP_060606.3:p.Ile2196HisfsTer15
NM_001206846.2:c.4066-6503dup	NP_001193775.1:n.4066-6503dup