Canonical Allele Identifier: CA2649662161

Gene: ASPM

Linked Data

• gnomAD v4: 1-197122503-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122504dup , CM000663.2:g.197122504dup	GRCh38
NC_000001.10:g.197091634dup , CM000663.1:g.197091634dup	GRCh37
NC_000001.9:g.195358257dup	NCBI36
NG_015867.1:g.29191dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.1524dup
ENST00000367409.9:c.3482dup MANE Select	ENSP00000356379.4:p.Cys1162MetfsTer23
ENST00000680112.1:n.1538dup
ENST00000680265.1:c.3482dup	ENSP00000505384.1:p.Cys1162MetfsTer23
ENST00000680710.1:c.3482dup	ENSP00000506676.1:p.Cys1162MetfsTer23
ENST00000681879.1:c.3482dup	ENSP00000505363.1:p.Cys1162MetfsTer23
ENST00000294732.11:c.3482dup	ENSP00000294732.7:p.Cys1162MetfsTer23
ENST00000367408.5:c.1232dup	ENSP00000356378.1:p.Cys412MetfsTer23
ENST00000367409.8:c.3482dup	ENSP00000356379.4:p.Cys1162MetfsTer23
ENST00000612785.1:c.562-19857dup	ENSP00000479244.1:n.562-19857dup
NM_001206846.1:c.3482dup	NP_001193775.1:p.Cys1162MetfsTer23
NM_018136.4:c.3482dup	NP_060606.3:p.Cys1162MetfsTer23
NM_018136.5:c.3482dup MANE Select	NP_060606.3:p.Cys1162MetfsTer23
NM_001206846.2:c.3482dup	NP_001193775.1:p.Cys1162MetfsTer23