Canonical Allele Identifier: CA270995
Gene: ASPM HGNC NCBI
ClinVar RCV:
RCV000145075
RCV001560972
ClinVar Variation:
157774
dbSNP:
368843607
gnomAD v2:
1:197055928 C / T
gnomAD v3:
1:197086798 C / T
gnomAD v4:
chr1-197086798-C-T
Joint Max Group AF 0.00054057 (EAS)
Genomes Max Group AF 0.00063405 (EAS)
Exomes Max Group AF 0.00046127 (EAS)
MyVariant.info:
GRCh38 chr1:g.197086798C>T
GRCh37 chr1:g.197055928C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197086798C>T , CM000663.2:g.197086798C>T GRCh38
NC_000001.10:g.197055928C>T , CM000663.1:g.197055928C>T GRCh37
NC_000001.9:g.195322551C>T NCBI36
NG_015867.1:g.64897G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.3618+5G>A
ENST00000367409.9:c.10331+5G>A MANE Select ENSP00000356379.4:n.10331+5G>A
ENST00000680265.1:c.10553+5G>A ENSP00000505384.1:n.10553+5G>A
ENST00000680710.1:c.10307+5G>A ENSP00000506676.1:n.10307+5G>A
ENST00000294732.11:c.5576+5G>A ENSP00000294732.7:n.5576+5G>A
ENST00000367408.5:c.3326+5G>A ENSP00000356378.1:n.3326+5G>A
ENST00000367409.8:c.10331+5G>A ENSP00000356379.4:n.10331+5G>A
NM_001206846.1:c.5576+5G>A NP_001193775.1:n.5576+5G>A
NM_018136.4:c.10331+5G>A NP_060606.3:n.10331+5G>A
NM_018136.5:c.10331+5G>A MANE Select NP_060606.3:n.10331+5G>A
NM_001206846.2:c.5576+5G>A NP_001193775.1:n.5576+5G>A
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