Canonical Allele Identifier: CA1309721

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2427887
• ClinVar RCV Id: RCV003116858
• dbSNP Id: rs368081657
• ExAC: 1:197072758 T / C
• gnomAD v2: 1-197072758-T-C
• gnomAD v3: 1-197103628-T-C
• gnomAD v4: 1-197103628-T-C
• MyVariant Identifiers: chr1:g.197072758T>C (hg19) ; chr1:g.197103628T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103628T>C , CM000663.2:g.197103628T>C	GRCh38
NC_000001.10:g.197072758T>C , CM000663.1:g.197072758T>C	GRCh37
NC_000001.9:g.195339381T>C	NCBI36
NG_015867.1:g.48067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7464A>G
ENST00000367409.9:c.5623A>G MANE Select	ENSP00000356379.4:p.Lys1875Glu
ENST00000680265.1:c.5623A>G	ENSP00000505384.1:p.Lys1875Glu
ENST00000680710.1:c.5623A>G	ENSP00000506676.1:p.Lys1875Glu
ENST00000294732.11:c.4066-7464A>G	ENSP00000294732.7:n.4066-7464A>G
ENST00000367408.5:c.1816-7464A>G	ENSP00000356378.1:n.1816-7464A>G
ENST00000367409.8:c.5623A>G	ENSP00000356379.4:p.Lys1875Glu
ENST00000612785.1:c.562-981A>G	ENSP00000479244.1:n.562-981A>G
NM_001206846.1:c.4066-7464A>G	NP_001193775.1:n.4066-7464A>G
NM_018136.4:c.5623A>G	NP_060606.3:p.Lys1875Glu
NM_018136.5:c.5623A>G MANE Select	NP_060606.3:p.Lys1875Glu
NM_001206846.2:c.4066-7464A>G	NP_001193775.1:n.4066-7464A>G