Canonical Allele Identifier: CA1309737

Gene: ASPM

Linked Data

• dbSNP Id: rs781709178
• ExAC: 1:197072839 GCA / G
• gnomAD v2: 1-197072839-GCA-G
• gnomAD v4: 1-197103709-GCA-G
• MyVariant Identifiers: chr1:g.197072840_197072841del (hg19) ; chr1:g.197103710_197103711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103712_197103713del , CM000663.2:g.197103712_197103713del	GRCh38
NC_000001.10:g.197072842_197072843del , CM000663.1:g.197072842_197072843del	GRCh37
NC_000001.9:g.195339465_195339466del	NCBI36
NG_015867.1:g.47984_47985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7547_2108-7546del
ENST00000367409.9:c.5540_5541del MANE Select	ENSP00000356379.4:p.Val1847AlafsTer19
ENST00000680265.1:c.5540_5541del	ENSP00000505384.1:p.Val1847AlafsTer19
ENST00000680710.1:c.5540_5541del	ENSP00000506676.1:p.Val1847AlafsTer19
ENST00000294732.11:c.4066-7547_4066-7546del	ENSP00000294732.7:n.4066-7547_4066-7546del
ENST00000367408.5:c.1816-7547_1816-7546del	ENSP00000356378.1:n.1816-7547_1816-7546del
ENST00000367409.8:c.5540_5541del	ENSP00000356379.4:p.Val1847AlafsTer19
ENST00000612785.1:c.562-1064_562-1063del	ENSP00000479244.1:n.562-1064_562-1063del
NM_001206846.1:c.4066-7547_4066-7546del	NP_001193775.1:n.4066-7547_4066-7546del
NM_018136.4:c.5540_5541del	NP_060606.3:p.Val1847AlafsTer19
NM_018136.5:c.5540_5541del MANE Select	NP_060606.3:p.Val1847AlafsTer19
NM_001206846.2:c.4066-7547_4066-7546del	NP_001193775.1:n.4066-7547_4066-7546del