Canonical Allele Identifier: CA528535314

Gene: ASPM

Linked Data

• dbSNP Id: rs1557964750
• gnomAD v2: 1-197111441-A-AT
• gnomAD v4: 1-197142311-A-AT
• MyVariant Identifiers: chr1:g.197111441_197111442insT (hg19) ; chr1:g.197142311_197142312insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142315dup , CM000663.2:g.197142315dup	GRCh38
NC_000001.10:g.197111445dup , CM000663.1:g.197111445dup	GRCh37
NC_000001.9:g.195378068dup	NCBI36
NG_015867.1:g.9383dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1921+19dup MANE Select	ENSP00000356379.4:n.1921+19dup
ENST00000679766.1:n.2138+19dup
ENST00000680265.1:c.1921+19dup	ENSP00000505384.1:n.1921+19dup
ENST00000680710.1:c.1921+19dup	ENSP00000506676.1:n.1921+19dup
ENST00000681879.1:c.1921+19dup	ENSP00000505363.1:n.1921+19dup
ENST00000294732.11:c.1921+19dup	ENSP00000294732.7:n.1921+19dup
ENST00000367409.8:c.1921+19dup	ENSP00000356379.4:n.1921+19dup
ENST00000612785.1:c.561+1379dup	ENSP00000479244.1:n.561+1379dup
NM_001206846.1:c.1921+19dup	NP_001193775.1:n.1921+19dup
NM_018136.4:c.1921+19dup	NP_060606.3:n.1921+19dup
NM_018136.5:c.1921+19dup MANE Select	NP_060606.3:n.1921+19dup
NM_001206846.2:c.1921+19dup	NP_001193775.1:n.1921+19dup