Canonical Allele Identifier: CA1139656466

Gene: ASPM

Linked Data

• ClinVar Variation Id: 977850
• ClinVar RCV Id: RCV001255762

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142633dup , CM000663.2:g.197142633dup	GRCh38
NC_000001.10:g.197111763dup , CM000663.1:g.197111763dup	GRCh37
NC_000001.9:g.195378386dup	NCBI36
NG_015867.1:g.9062dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1619dup MANE Select	ENSP00000356379.4:p.Asp540GlufsTer15
ENST00000679766.1:n.1836dup
ENST00000680265.1:c.1619dup	ENSP00000505384.1:p.Asp540GlufsTer15
ENST00000680710.1:c.1619dup	ENSP00000506676.1:p.Asp540GlufsTer15
ENST00000681879.1:c.1619dup	ENSP00000505363.1:p.Asp540GlufsTer15
ENST00000294732.11:c.1619dup	ENSP00000294732.7:p.Asp540GlufsTer15
ENST00000367409.8:c.1619dup	ENSP00000356379.4:p.Asp540GlufsTer15
ENST00000612785.1:c.561+1058dup	ENSP00000479244.1:n.561+1058dup
NM_001206846.1:c.1619dup	NP_001193775.1:p.Asp540GlufsTer15
NM_018136.4:c.1619dup	NP_060606.3:p.Asp540GlufsTer15
NM_018136.5:c.1619dup MANE Select	NP_060606.3:p.Asp540GlufsTer15
NM_001206846.2:c.1619dup	NP_001193775.1:p.Asp540GlufsTer15