Canonical Allele Identifier: CA16042295

Gene: ASPM

Linked Data

• ClinVar Variation Id: 373175
• ClinVar RCV Id: RCV000413189 ; RCV002470853
• dbSNP Id: rs1057518268
• gnomAD v4: 1-197142524-CTT-C
• MyVariant Identifiers: chr1:g.197111655_197111656del (hg19) ; chr1:g.197142525_197142526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142526_197142527del , CM000663.2:g.197142526_197142527del	GRCh38
NC_000001.10:g.197111656_197111657del , CM000663.1:g.197111656_197111657del	GRCh37
NC_000001.9:g.195378279_195378280del	NCBI36
NG_015867.1:g.9169_9170del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1726_1727del MANE Select	ENSP00000356379.4:p.Lys576GlufsTer?
ENST00000679766.1:n.1943_1944del
ENST00000680265.1:c.1726_1727del	ENSP00000505384.1:p.Lys576GlufsTer?
ENST00000680710.1:c.1726_1727del	ENSP00000506676.1:p.Lys576GlufsTer?
ENST00000681879.1:c.1726_1727del	ENSP00000505363.1:p.Lys576GlufsTer?
ENST00000294732.11:c.1726_1727del	ENSP00000294732.7:p.Lys576GlufsTer?
ENST00000367409.8:c.1726_1727del	ENSP00000356379.4:p.Lys576GlufsTer?
ENST00000612785.1:c.561+1165_561+1166del	ENSP00000479244.1:n.561+1165_561+1166del
NM_001206846.1:c.1726_1727del	NP_001193775.1:p.Lys576GlufsTer?
NM_018136.4:c.1726_1727del	NP_060606.3:p.Lys576GlufsTer?
NM_018136.5:c.1726_1727del MANE Select	NP_060606.3:p.Lys576GlufsTer?
NM_001206846.2:c.1726_1727del	NP_001193775.1:p.Lys576GlufsTer?