Canonical Allele Identifier: CA271017
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197128635G>A
GRCh37 chr1:g.197097765G>A
gnomAD v2:
1:197097765 G / A
gnomAD v3:
1:197128635 G / A
gnomAD v4:
chr1-197128635-G-A
Joint Max Group AF 0.00001725 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001627 (NFE)
ClinVar RCV:
RCV000145102
RCV000578788
ClinVar Variation:
157797
dbSNP:
587783227
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197128635G>A , CM000663.2:g.197128635G>A GRCh38
NC_000001.10:g.197097765G>A , CM000663.1:g.197097765G>A GRCh37
NC_000001.9:g.195364388G>A NCBI36
NG_015867.1:g.23060C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.743C>T
ENST00000367409.9:c.2791C>T MANE Select ENSP00000356379.4:p.Arg931Ter
ENST00000680112.1:n.847C>T
ENST00000680265.1:c.2791C>T ENSP00000505384.1:p.Arg931Ter
ENST00000680710.1:c.2791C>T ENSP00000506676.1:p.Arg931Ter
ENST00000681879.1:c.2791C>T ENSP00000505363.1:p.Arg931Ter
ENST00000294732.11:c.2791C>T ENSP00000294732.7:p.Arg931Ter
ENST00000367408.5:c.541C>T ENSP00000356378.1:p.Arg181Ter
ENST00000367409.8:c.2791C>T ENSP00000356379.4:p.Arg931Ter
ENST00000612785.1:c.561+15056C>T ENSP00000479244.1:n.561+15056C>T
NM_001206846.1:c.2791C>T NP_001193775.1:p.Arg931Ter
NM_018136.4:c.2791C>T NP_060606.3:p.Arg931Ter
NM_018136.5:c.2791C>T MANE Select NP_060606.3:p.Arg931Ter
NM_001206846.2:c.2791C>T NP_001193775.1:p.Arg931Ter
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