Canonical Allele Identifier: CA2649661170

Gene: ASPM

Linked Data

• gnomAD v4: 1-197093198-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093201dup , CM000663.2:g.197093201dup	GRCh38
NC_000001.10:g.197062331dup , CM000663.1:g.197062331dup	GRCh37
NC_000001.9:g.195328954dup	NCBI36
NG_015867.1:g.58496dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2434dup
ENST00000367409.9:c.9147dup MANE Select	ENSP00000356379.4:p.Leu3050SerfsTer23
ENST00000680265.1:c.9369dup	ENSP00000505384.1:p.Leu3124SerfsTer23
ENST00000680710.1:c.9147dup	ENSP00000506676.1:p.Leu3050SerfsTer23
ENST00000294732.11:c.4392dup	ENSP00000294732.7:p.Leu1465SerfsTer23
ENST00000367408.5:c.2142dup	ENSP00000356378.1:p.Leu715SerfsTer23
ENST00000367409.8:c.9147dup	ENSP00000356379.4:p.Leu3050SerfsTer23
ENST00000612785.1:c.3105dup	ENSP00000479244.1:p.Leu1036SerfsTer23
NM_001206846.1:c.4392dup	NP_001193775.1:p.Leu1465SerfsTer23
NM_018136.4:c.9147dup	NP_060606.3:p.Leu3050SerfsTer23
NM_018136.5:c.9147dup MANE Select	NP_060606.3:p.Leu3050SerfsTer23
NM_001206846.2:c.4392dup	NP_001193775.1:p.Leu1465SerfsTer23