Canonical Allele Identifier: CA528535324

Gene: ASPM

Linked Data

• dbSNP Id: rs1557964967
• gnomAD v2: 1-197111642-G-GCTTC
• gnomAD v4: 1-197142512-G-GCTTC
• MyVariant Identifiers: chr1:g.197111642_197111643insCTTC (hg19) ; chr1:g.197142512_197142513insCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142514_197142517dup , CM000663.2:g.197142514_197142517dup	GRCh38
NC_000001.10:g.197111644_197111647dup , CM000663.1:g.197111644_197111647dup	GRCh37
NC_000001.9:g.195378267_195378270dup	NCBI36
NG_015867.1:g.9179_9182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1736_1739dup MANE Select	ENSP00000356379.4:p.Ser580ArgfsTer32
ENST00000679766.1:n.1953_1956dup
ENST00000680265.1:c.1736_1739dup	ENSP00000505384.1:p.Ser580ArgfsTer32
ENST00000680710.1:c.1736_1739dup	ENSP00000506676.1:p.Ser580ArgfsTer32
ENST00000681879.1:c.1736_1739dup	ENSP00000505363.1:p.Ser580ArgfsTer32
ENST00000294732.11:c.1736_1739dup	ENSP00000294732.7:p.Ser580ArgfsTer32
ENST00000367409.8:c.1736_1739dup	ENSP00000356379.4:p.Ser580ArgfsTer32
ENST00000612785.1:c.561+1175_561+1178dup	ENSP00000479244.1:n.561+1175_561+1178dup
NM_001206846.1:c.1736_1739dup	NP_001193775.1:p.Ser580ArgfsTer32
NM_018136.4:c.1736_1739dup	NP_060606.3:p.Ser580ArgfsTer32
NM_018136.5:c.1736_1739dup MANE Select	NP_060606.3:p.Ser580ArgfsTer32
NM_001206846.2:c.1736_1739dup	NP_001193775.1:p.Ser580ArgfsTer32