Canonical Allele Identifier: CA343998535

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2967321
• ClinVar RCV Id: RCV003823999
• dbSNP Id: rs1193488480
• gnomAD v4: 1-197088383-A-T
• MyVariant Identifiers: chr1:g.197057513A>T (hg19) ; chr1:g.197088383A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088383A>T , CM000663.2:g.197088383A>T	GRCh38
NC_000001.10:g.197057513A>T , CM000663.1:g.197057513A>T	GRCh37
NC_000001.9:g.195324136A>T	NCBI36
NG_015867.1:g.63312T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3321T>A
ENST00000367409.9:c.10034T>A MANE Select	ENSP00000356379.4:p.Ile3345Lys
ENST00000680265.1:c.10256T>A	ENSP00000505384.1:p.Ile3419Lys
ENST00000680710.1:c.10010T>A	ENSP00000506676.1:p.Ile3337Lys
ENST00000294732.11:c.5279T>A	ENSP00000294732.7:p.Ile1760Lys
ENST00000367408.5:c.3029T>A	ENSP00000356378.1:p.Ile1010Lys
ENST00000367409.8:c.10034T>A	ENSP00000356379.4:p.Ile3345Lys
ENST00000612785.1:c.3992T>A	ENSP00000479244.1:p.Ile1331Lys
NM_001206846.1:c.5279T>A	NP_001193775.1:p.Ile1760Lys
NM_018136.4:c.10034T>A	NP_060606.3:p.Ile3345Lys
NM_018136.5:c.10034T>A MANE Select	NP_060606.3:p.Ile3345Lys
NM_001206846.2:c.5279T>A	NP_001193775.1:p.Ile1760Lys