Canonical Allele Identifier: CA528535243

Gene: ASPM

Linked Data

• ClinVar Variation Id: 977851
• ClinVar RCV Id: RCV001255763
• dbSNP Id: rs587783277
• gnomAD v2: 1-197112577-CT-C
• MyVariant Identifiers: chr1:g.197112578del (hg19) ; chr1:g.197143448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143451del , CM000663.2:g.197143451del	GRCh38
NC_000001.10:g.197112581del , CM000663.1:g.197112581del	GRCh37
NC_000001.9:g.195379204del	NCBI36
NG_015867.1:g.8247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.804del MANE Select	ENSP00000356379.4:p.Val269PhefsTer8
ENST00000679766.1:n.1021del
ENST00000680265.1:c.804del	ENSP00000505384.1:p.Val269PhefsTer8
ENST00000680710.1:c.804del	ENSP00000506676.1:p.Val269PhefsTer8
ENST00000681879.1:c.804del	ENSP00000505363.1:p.Val269PhefsTer8
ENST00000294732.11:c.804del	ENSP00000294732.7:p.Val269PhefsTer8
ENST00000367409.8:c.804del	ENSP00000356379.4:p.Val269PhefsTer8
ENST00000612785.1:c.561+243del	ENSP00000479244.1:n.561+243del
NM_001206846.1:c.804del	NP_001193775.1:p.Val269PhefsTer8
NM_018136.4:c.804del	NP_060606.3:p.Val269PhefsTer8
NM_018136.5:c.804del MANE Select	NP_060606.3:p.Val269PhefsTer8
NM_001206846.2:c.804del	NP_001193775.1:p.Val269PhefsTer8