Canonical Allele Identifier: CA528535224

Gene: ASPM

Linked Data

• dbSNP Id: rs1284196132
• gnomAD v2: 1-197112005-TG-T
• gnomAD v4: 1-197142875-TG-T
• MyVariant Identifiers: chr1:g.197112006del (hg19) ; chr1:g.197142876del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142876del , CM000663.2:g.197142876del	GRCh38
NC_000001.10:g.197112006del , CM000663.1:g.197112006del	GRCh37
NC_000001.9:g.195378629del	NCBI36
NG_015867.1:g.8819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1376del MANE Select	ENSP00000356379.4:p.Ser459Ter
ENST00000679766.1:n.1593del
ENST00000680265.1:c.1376del	ENSP00000505384.1:p.Ser459Ter
ENST00000680710.1:c.1376del	ENSP00000506676.1:p.Ser459Ter
ENST00000681879.1:c.1376del	ENSP00000505363.1:p.Ser459Ter
ENST00000294732.11:c.1376del	ENSP00000294732.7:p.Ser459Ter
ENST00000367409.8:c.1376del	ENSP00000356379.4:p.Ser459Ter
ENST00000612785.1:c.561+815del	ENSP00000479244.1:n.561+815del
NM_001206846.1:c.1376del	NP_001193775.1:p.Ser459Ter
NM_018136.4:c.1376del	NP_060606.3:p.Ser459Ter
NM_018136.5:c.1376del MANE Select	NP_060606.3:p.Ser459Ter
NM_001206846.2:c.1376del	NP_001193775.1:p.Ser459Ter