Canonical Allele Identifier: CA528535013

Gene: ASPM

Linked Data

• dbSNP Id: rs1557947341
• gnomAD v2: 1-197072865-TTA-T
• gnomAD v4: 1-197103735-TTA-T
• MyVariant Identifiers: chr1:g.197072866_197072867del (hg19) ; chr1:g.197103736_197103737del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103738_197103739del , CM000663.2:g.197103738_197103739del	GRCh38
NC_000001.10:g.197072868_197072869del , CM000663.1:g.197072868_197072869del	GRCh37
NC_000001.9:g.195339491_195339492del	NCBI36
NG_015867.1:g.47958_47959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7573_2108-7572del
ENST00000367409.9:c.5514_5515del MANE Select	ENSP00000356379.4:p.Tyr1838Ter
ENST00000680265.1:c.5514_5515del	ENSP00000505384.1:p.Tyr1838Ter
ENST00000680710.1:c.5514_5515del	ENSP00000506676.1:p.Tyr1838Ter
ENST00000294732.11:c.4066-7573_4066-7572del	ENSP00000294732.7:n.4066-7573_4066-7572del
ENST00000367408.5:c.1816-7573_1816-7572del	ENSP00000356378.1:n.1816-7573_1816-7572del
ENST00000367409.8:c.5514_5515del	ENSP00000356379.4:p.Tyr1838Ter
ENST00000612785.1:c.562-1090_562-1089del	ENSP00000479244.1:n.562-1090_562-1089del
NM_001206846.1:c.4066-7573_4066-7572del	NP_001193775.1:n.4066-7573_4066-7572del
NM_018136.4:c.5514_5515del	NP_060606.3:p.Tyr1838Ter
NM_018136.5:c.5514_5515del MANE Select	NP_060606.3:p.Tyr1838Ter
NM_001206846.2:c.4066-7573_4066-7572del	NP_001193775.1:n.4066-7573_4066-7572del