Canonical Allele Identifier: CA171269
Gene: ASPM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197146357G>T
GRCh37 chr1:g.197115487G>T
gnomAD v2:
1:197115487 G / T
gnomAD v3:
1:197146357 G / T
gnomAD v4:
chr1-197146357-G-T
Joint Max Group AF 0.00027066 (NFE)
Genomes Max Group AF 0.00018232 (NFE)
Exomes Max Group AF 0.00027099 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197146357G>T , CM000663.2:g.197146357G>T GRCh38
NC_000001.10:g.197115487G>T , CM000663.1:g.197115487G>T GRCh37
NC_000001.9:g.195382110G>T NCBI36
NG_015867.1:g.5338C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.81C>A MANE Select ENSP00000356379.4:p.Pro27=
ENST00000679766.1:n.298C>A
ENST00000680265.1:c.81C>A ENSP00000505384.1:p.Pro27=
ENST00000680710.1:c.81C>A ENSP00000506676.1:p.Pro27=
ENST00000681879.1:c.81C>A ENSP00000505363.1:p.Pro27=
ENST00000294732.11:c.81C>A ENSP00000294732.7:p.Pro27=
ENST00000367409.8:c.81C>A ENSP00000356379.4:p.Pro27=
ENST00000612785.1:c.81C>A ENSP00000479244.1:p.Pro27=
NM_001206846.1:c.81C>A NP_001193775.1:p.Pro27=
NM_018136.4:c.81C>A NP_060606.3:p.Pro27=
NM_018136.5:c.81C>A MANE Select NP_060606.3:p.Pro27=
NM_001206846.2:c.81C>A NP_001193775.1:p.Pro27=
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