Canonical Allele Identifier: CA1217925305

Gene: ASPM

Linked Data

• dbSNP Id: rs1656738241

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090339_197090340insAACACCTAGGTTAG , CM000663.2:g.197090339_197090340insAACACCTAGGTTAG	GRCh38
NC_000001.10:g.197059469_197059470insAACACCTAGGTTAG , CM000663.1:g.197059469_197059470insAACACCTAGGTTAG	GRCh37
NC_000001.9:g.195326092_195326093insAACACCTAGGTTAG	NCBI36
NG_015867.1:g.61355_61356insCTAACCTAGGTGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2972_2973insCTAACCTAGGTGTT
ENST00000367409.9:c.9685_9686insCTAACCTAGGTGTT MANE Select	ENSP00000356379.4:p.Ile3229ThrfsTer11
ENST00000680265.1:c.9907_9908insCTAACCTAGGTGTT	ENSP00000505384.1:p.Ile3303ThrfsTer11
ENST00000680710.1:c.9661_9662insCTAACCTAGGTGTT	ENSP00000506676.1:p.Ile3221ThrfsTer11
ENST00000294732.11:c.4930_4931insCTAACCTAGGTGTT	ENSP00000294732.7:p.Ile1644ThrfsTer11
ENST00000367408.5:c.2680_2681insCTAACCTAGGTGTT	ENSP00000356378.1:p.Ile894ThrfsTer11
ENST00000367409.8:c.9685_9686insCTAACCTAGGTGTT	ENSP00000356379.4:p.Ile3229ThrfsTer11
ENST00000612785.1:c.3643_3644insCTAACCTAGGTGTT	ENSP00000479244.1:p.Ile1215ThrfsTer11
NM_001206846.1:c.4930_4931insCTAACCTAGGTGTT	NP_001193775.1:p.Ile1644ThrfsTer11
NM_018136.4:c.9685_9686insCTAACCTAGGTGTT	NP_060606.3:p.Ile3229ThrfsTer11
NM_018136.5:c.9685_9686insCTAACCTAGGTGTT MANE Select	NP_060606.3:p.Ile3229ThrfsTer11
NM_001206846.2:c.4930_4931insCTAACCTAGGTGTT	NP_001193775.1:p.Ile1644ThrfsTer11