Canonical Allele Identifier: CA1309610

Gene: ASPM

Linked Data

• ClinVar Variation Id: 234256
• ClinVar RCV Id: RCV000213687 ; RCV000710639 ; RCV000763781 ; RCV002516184
• dbSNP Id: rs144574871
• ExAC: 1:197072106 T / A
• gnomAD v2: 1-197072106-T-A
• gnomAD v3: 1-197102976-T-A
• gnomAD v4: 1-197102976-T-A
• MyVariant Identifiers: chr1:g.197072106T>A (hg19) ; chr1:g.197102976T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102976T>A , CM000663.2:g.197102976T>A	GRCh38
NC_000001.10:g.197072106T>A , CM000663.1:g.197072106T>A	GRCh37
NC_000001.9:g.195338729T>A	NCBI36
NG_015867.1:g.48719A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-6812A>T
ENST00000367409.9:c.6275A>T MANE Select	ENSP00000356379.4:p.Asn2092Ile
ENST00000680265.1:c.6275A>T	ENSP00000505384.1:p.Asn2092Ile
ENST00000680710.1:c.6275A>T	ENSP00000506676.1:p.Asn2092Ile
ENST00000294732.11:c.4066-6812A>T	ENSP00000294732.7:n.4066-6812A>T
ENST00000367408.5:c.1816-6812A>T	ENSP00000356378.1:n.1816-6812A>T
ENST00000367409.8:c.6275A>T	ENSP00000356379.4:p.Asn2092Ile
ENST00000612785.1:c.562-329A>T	ENSP00000479244.1:n.562-329A>T
NM_001206846.1:c.4066-6812A>T	NP_001193775.1:n.4066-6812A>T
NM_018136.4:c.6275A>T	NP_060606.3:p.Asn2092Ile
NM_018136.5:c.6275A>T MANE Select	NP_060606.3:p.Asn2092Ile
NM_001206846.2:c.4066-6812A>T	NP_001193775.1:n.4066-6812A>T