Canonical Allele Identifier: CA344021692

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1451719
• ClinVar RCV Id: RCV002035371
• dbSNP Id: rs778859631
• gnomAD v3: 1-197102543-A-T
• gnomAD v4: 1-197102543-A-T
• MyVariant Identifiers: chr1:g.197071673A>T (hg19) ; chr1:g.197102543A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102543A>T , CM000663.2:g.197102543A>T	GRCh38
NC_000001.10:g.197071673A>T , CM000663.1:g.197071673A>T	GRCh37
NC_000001.9:g.195338296A>T	NCBI36
NG_015867.1:g.49152T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6379T>A
ENST00000367409.9:c.6708T>A MANE Select	ENSP00000356379.4:p.Tyr2236Ter
ENST00000680265.1:c.6708T>A	ENSP00000505384.1:p.Tyr2236Ter
ENST00000680710.1:c.6708T>A	ENSP00000506676.1:p.Tyr2236Ter
ENST00000294732.11:c.4066-6379T>A	ENSP00000294732.7:n.4066-6379T>A
ENST00000367408.5:c.1816-6379T>A	ENSP00000356378.1:n.1816-6379T>A
ENST00000367409.8:c.6708T>A	ENSP00000356379.4:p.Tyr2236Ter
ENST00000612785.1:c.666T>A	ENSP00000479244.1:p.Tyr222Ter
NM_001206846.1:c.4066-6379T>A	NP_001193775.1:n.4066-6379T>A
NM_018136.4:c.6708T>A	NP_060606.3:p.Tyr2236Ter
NM_018136.5:c.6708T>A MANE Select	NP_060606.3:p.Tyr2236Ter
NM_001206846.2:c.4066-6379T>A	NP_001193775.1:n.4066-6379T>A