Canonical Allele Identifier: CA528535130

Gene: ASPM

Linked Data

• dbSNP Id: rs1558323980
• gnomAD v2: 1-197062143-A-AT
• gnomAD v4: 1-197093013-A-AT
• MyVariant Identifiers: chr1:g.197062144_197062145insT (hg19) ; chr1:g.197093014_197093015insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093017dup , CM000663.2:g.197093017dup	GRCh38
NC_000001.10:g.197062147dup , CM000663.1:g.197062147dup	GRCh37
NC_000001.9:g.195328770dup	NCBI36
NG_015867.1:g.58681dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2581+38dup
ENST00000367409.9:c.9294+38dup MANE Select	ENSP00000356379.4:n.9294+38dup
ENST00000680265.1:c.9516+38dup	ENSP00000505384.1:n.9516+38dup
ENST00000680710.1:c.9294+38dup	ENSP00000506676.1:n.9294+38dup
ENST00000294732.11:c.4539+38dup	ENSP00000294732.7:n.4539+38dup
ENST00000367408.5:c.2289+38dup	ENSP00000356378.1:n.2289+38dup
ENST00000367409.8:c.9294+38dup	ENSP00000356379.4:n.9294+38dup
ENST00000612785.1:c.3252+38dup	ENSP00000479244.1:n.3252+38dup
NM_001206846.1:c.4539+38dup	NP_001193775.1:n.4539+38dup
NM_018136.4:c.9294+38dup	NP_060606.3:n.9294+38dup
NM_018136.5:c.9294+38dup MANE Select	NP_060606.3:n.9294+38dup
NM_001206846.2:c.4539+38dup	NP_001193775.1:n.4539+38dup