Canonical Allele Identifier: CA729731734

Gene: ASPM

Linked Data

• dbSNP Id: rs1216516850
• MyVariant Identifiers: chr1:g.197073400_197073401insATGATAA (hg19) ; chr1:g.197104270_197104271insATGATAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104270_197104271insATGATAA , CM000663.2:g.197104270_197104271insATGATAA	GRCh38
NC_000001.10:g.197073400_197073401insATGATAA , CM000663.1:g.197073400_197073401insATGATAA	GRCh37
NC_000001.9:g.195340023_195340024insATGATAA	NCBI36
NG_015867.1:g.47424_47425insTTATCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8107_2108-8106insTTATCAT
ENST00000367409.9:c.4980_4981insTTATCAT MANE Select	ENSP00000356379.4:p.Lys1661LeufsTer3
ENST00000680265.1:c.4980_4981insTTATCAT	ENSP00000505384.1:p.Lys1661LeufsTer3
ENST00000680710.1:c.4980_4981insTTATCAT	ENSP00000506676.1:p.Lys1661LeufsTer3
ENST00000294732.11:c.4066-8107_4066-8106insTTATCAT	ENSP00000294732.7:n.4066-8107_4066-8106insTTATCAT
ENST00000367408.5:c.1816-8107_1816-8106insTTATCAT	ENSP00000356378.1:n.1816-8107_1816-8106insTTATCAT
ENST00000367409.8:c.4980_4981insTTATCAT	ENSP00000356379.4:p.Lys1661LeufsTer3
ENST00000612785.1:c.562-1624_562-1623insTTATCAT	ENSP00000479244.1:n.562-1624_562-1623insTTATCAT
NM_001206846.1:c.4066-8107_4066-8106insTTATCAT	NP_001193775.1:n.4066-8107_4066-8106insTTATCAT
NM_018136.4:c.4980_4981insTTATCAT	NP_060606.3:p.Lys1661LeufsTer3
NM_018136.5:c.4980_4981insTTATCAT MANE Select	NP_060606.3:p.Lys1661LeufsTer3
NM_001206846.2:c.4066-8107_4066-8106insTTATCAT	NP_001193775.1:n.4066-8107_4066-8106insTTATCAT