Canonical Allele Identifier: CA340329
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 4962
ClinVar RCV Id: RCV000005250
dbSNP Id: rs137852996
ExAC: 1:197113179 G / A
gnomAD v2: 1-197113179-G-A
gnomAD v4: 1-197144049-G-A
COSMIC: COSM4433787
MyVariant Identifiers: chr1:g.197113179G>A (hg19) chr1:g.197144049G>A (hg38)
PubMed: PMID:15355437 PMID:20301772
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197144049G>A , CM000663.2:g.197144049G>A GRCh38
NC_000001.10:g.197113179G>A , CM000663.1:g.197113179G>A GRCh37
NC_000001.9:g.195379802G>A NCBI36
NG_015867.1:g.7646C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.349C>T MANE Select ENSP00000356379.4:p.Arg117Ter
ENST00000679766.1:n.566C>T
ENST00000680265.1:c.349C>T ENSP00000505384.1:p.Arg117Ter
ENST00000680710.1:c.349C>T ENSP00000506676.1:p.Arg117Ter
ENST00000681879.1:c.349C>T ENSP00000505363.1:p.Arg117Ter
ENST00000294732.11:c.349C>T ENSP00000294732.7:p.Arg117Ter
ENST00000367409.8:c.349C>T ENSP00000356379.4:p.Arg117Ter
ENST00000612785.1:c.349C>T ENSP00000479244.1:p.Arg117Ter
NM_001206846.1:c.349C>T NP_001193775.1:p.Arg117Ter
NM_018136.4:c.349C>T NP_060606.3:p.Arg117Ter
NM_018136.5:c.349C>T MANE Select NP_060606.3:p.Arg117Ter
NM_001206846.2:c.349C>T NP_001193775.1:p.Arg117Ter
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