Canonical Allele Identifier: CA342288

Gene: ASPM

Linked Data

• ClinVar Variation Id: 21620
• ClinVar RCV Id: RCV000020810
• dbSNP Id: rs199422183
• MyVariant Identifiers: chr1:g.197062357_197062358insAATG (hg19) ; chr1:g.197093227_197093228insAATG (hg38)
• PubMed: PMID:20301772

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093228_197093231dup , CM000663.2:g.197093228_197093231dup	GRCh38
NC_000001.10:g.197062358_197062361dup , CM000663.1:g.197062358_197062361dup	GRCh37
NC_000001.9:g.195328981_195328984dup	NCBI36
NG_015867.1:g.58464_58467dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2402_2405dup
ENST00000367409.9:c.9115_9118dup MANE Select	ENSP00000356379.4:p.Tyr3040SerfsTer3
ENST00000680265.1:c.9337_9340dup	ENSP00000505384.1:p.Tyr3114SerfsTer3
ENST00000680710.1:c.9115_9118dup	ENSP00000506676.1:p.Tyr3040SerfsTer3
ENST00000294732.11:c.4360_4363dup	ENSP00000294732.7:p.Tyr1455SerfsTer3
ENST00000367408.5:c.2110_2113dup	ENSP00000356378.1:p.Tyr705SerfsTer3
ENST00000367409.8:c.9115_9118dup	ENSP00000356379.4:p.Tyr3040SerfsTer3
ENST00000612785.1:c.3073_3076dup	ENSP00000479244.1:p.Tyr1026SerfsTer3
NM_001206846.1:c.4360_4363dup	NP_001193775.1:p.Tyr1455SerfsTer3
NM_018136.4:c.9115_9118dup	NP_060606.3:p.Tyr3040SerfsTer3
NM_018136.5:c.9115_9118dup MANE Select	NP_060606.3:p.Tyr3040SerfsTer3
NM_001206846.2:c.4360_4363dup	NP_001193775.1:p.Tyr1455SerfsTer3