Canonical Allele Identifier: CA729721017

Gene: ASPM

Linked Data

• dbSNP Id: rs1366059327
• gnomAD v3: 1-197141948-T-TAGAG
• gnomAD v4: 1-197141948-T-TAGAG
• MyVariant Identifiers: chr1:g.197111078_197111079insAGAG (hg19) ; chr1:g.197141948_197141949insAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197141949_197141952dup , CM000663.2:g.197141949_197141952dup	GRCh38
NC_000001.10:g.197111079_197111082dup , CM000663.1:g.197111079_197111082dup	GRCh37
NC_000001.9:g.195377702_195377705dup	NCBI36
NG_015867.1:g.9743_9746dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1921+379_1921+382dup MANE Select	ENSP00000356379.4:n.1921+379_1921+382dup
ENST00000679766.1:n.2138+379_2138+382dup
ENST00000680265.1:c.1921+379_1921+382dup	ENSP00000505384.1:n.1921+379_1921+382dup
ENST00000680710.1:c.1921+379_1921+382dup	ENSP00000506676.1:n.1921+379_1921+382dup
ENST00000681879.1:c.1921+379_1921+382dup	ENSP00000505363.1:n.1921+379_1921+382dup
ENST00000294732.11:c.1921+379_1921+382dup	ENSP00000294732.7:n.1921+379_1921+382dup
ENST00000367409.8:c.1921+379_1921+382dup	ENSP00000356379.4:n.1921+379_1921+382dup
ENST00000612785.1:c.561+1739_561+1742dup	ENSP00000479244.1:n.561+1739_561+1742dup
NM_001206846.1:c.1921+379_1921+382dup	NP_001193775.1:n.1921+379_1921+382dup
NM_018136.4:c.1921+379_1921+382dup	NP_060606.3:n.1921+379_1921+382dup
NM_018136.5:c.1921+379_1921+382dup MANE Select	NP_060606.3:n.1921+379_1921+382dup
NM_001206846.2:c.1921+379_1921+382dup	NP_001193775.1:n.1921+379_1921+382dup