Canonical Allele Identifier: CA1310785

Gene: ASPM

Linked Data

• ClinVar Variation Id: 438588
• ClinVar RCV Id: RCV000656089 ; RCV003727752
• dbSNP Id: rs765275884
• ExAC: 1:197112408 CTA / C
• MyVariant Identifiers: chr1:g.197112409_197112410del (hg19) ; chr1:g.197143279_197143280del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143280_197143281del , CM000663.2:g.197143280_197143281del	GRCh38
NC_000001.10:g.197112410_197112411del , CM000663.1:g.197112410_197112411del	GRCh37
NC_000001.9:g.195379033_195379034del	NCBI36
NG_015867.1:g.8415_8416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.972_973del MANE Select	ENSP00000356379.4:p.Asn324LysfsTer5
ENST00000679766.1:n.1189_1190del
ENST00000680265.1:c.972_973del	ENSP00000505384.1:p.Asn324LysfsTer5
ENST00000680710.1:c.972_973del	ENSP00000506676.1:p.Asn324LysfsTer5
ENST00000681879.1:c.972_973del	ENSP00000505363.1:p.Asn324LysfsTer5
ENST00000294732.11:c.972_973del	ENSP00000294732.7:p.Asn324LysfsTer5
ENST00000367409.8:c.972_973del	ENSP00000356379.4:p.Asn324LysfsTer5
ENST00000612785.1:c.561+411_561+412del	ENSP00000479244.1:n.561+411_561+412del
NM_001206846.1:c.972_973del	NP_001193775.1:p.Asn324LysfsTer5
NM_018136.4:c.972_973del	NP_060606.3:p.Asn324LysfsTer5
NM_018136.5:c.972_973del MANE Select	NP_060606.3:p.Asn324LysfsTer5
NM_001206846.2:c.972_973del	NP_001193775.1:p.Asn324LysfsTer5