Canonical Allele Identifier: CA35873944

Gene: ASPM

Linked Data

• dbSNP Id: rs199422167
• COSMIC: COSM1337562
• MyVariant Identifiers: chr1:g.197073231_197073232insT (hg19) ; chr1:g.197104101_197104102insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104108dup , CM000663.2:g.197104108dup	GRCh38
NC_000001.10:g.197073238dup , CM000663.1:g.197073238dup	GRCh37
NC_000001.9:g.195339861dup	NCBI36
NG_015867.1:g.47593dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-7938dup
ENST00000367409.9:c.5149dup MANE Select	ENSP00000356379.4:p.Ile1717AsnfsTer24
ENST00000680265.1:c.5149dup	ENSP00000505384.1:p.Ile1717AsnfsTer24
ENST00000680710.1:c.5149dup	ENSP00000506676.1:p.Ile1717AsnfsTer24
ENST00000294732.11:c.4066-7938dup	ENSP00000294732.7:n.4066-7938dup
ENST00000367408.5:c.1816-7938dup	ENSP00000356378.1:n.1816-7938dup
ENST00000367409.8:c.5149dup	ENSP00000356379.4:p.Ile1717AsnfsTer24
ENST00000612785.1:c.562-1455dup	ENSP00000479244.1:n.562-1455dup
NM_001206846.1:c.4066-7938dup	NP_001193775.1:n.4066-7938dup
NM_018136.4:c.5149dup	NP_060606.3:p.Ile1717AsnfsTer24
NM_018136.5:c.5149dup MANE Select	NP_060606.3:p.Ile1717AsnfsTer24
NM_001206846.2:c.4066-7938dup	NP_001193775.1:n.4066-7938dup