Canonical Allele Identifier: CA271014
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 157795
ClinVar RCV Id: RCV000145099 RCV000222536 RCV001193345
dbSNP Id: rs587783225
gnomAD v2: 1-197102478-A-G
gnomAD v3: 1-197133348-A-G
gnomAD v4: 1-197133348-A-G
MyVariant Identifiers: chr1:g.197102478A>G (hg19) chr1:g.197133348A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197133348A>G , CM000663.2:g.197133348A>G GRCh38
NC_000001.10:g.197102478A>G , CM000663.1:g.197102478A>G GRCh37
NC_000001.9:g.195369101A>G NCBI36
NG_015867.1:g.18347T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.2419+2T>C MANE Select ENSP00000356379.4:n.2419+2T>C
ENST00000680112.1:n.475+2T>C
ENST00000680265.1:c.2419+2T>C ENSP00000505384.1:n.2419+2T>C
ENST00000680710.1:c.2419+2T>C ENSP00000506676.1:n.2419+2T>C
ENST00000681879.1:c.2419+2T>C ENSP00000505363.1:n.2419+2T>C
ENST00000294732.11:c.2419+2T>C ENSP00000294732.7:n.2419+2T>C
ENST00000367408.5:c.169+2T>C ENSP00000356378.1:n.169+2T>C
ENST00000367409.8:c.2419+2T>C ENSP00000356379.4:n.2419+2T>C
ENST00000612785.1:c.561+10343T>C ENSP00000479244.1:n.561+10343T>C
NM_001206846.1:c.2419+2T>C NP_001193775.1:n.2419+2T>C
NM_018136.4:c.2419+2T>C NP_060606.3:n.2419+2T>C
NM_018136.5:c.2419+2T>C MANE Select NP_060606.3:n.2419+2T>C
NM_001206846.2:c.2419+2T>C NP_001193775.1:n.2419+2T>C
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