Canonical Allele Identifier: CA136873893
Gene: USP8P1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31277757A>G
GRCh37 chr6:g.31245534A>G
gnomAD v2:
6:31245534 A / G
gnomAD v3:
6:31277757 A / G
gnomAD v4:
chr6-31277757-A-G
Joint Max Group AF 0.21964396 (MID)
Genomes Max Group AF 0.15531433 (SAS)
Exomes Max Group AF 0.21940625 (MID)
dbSNP:
10456057
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31277757A>G , CM000668.2:g.31277757A>G GRCh38
NC_000006.11:g.31245534A>G , CM000668.1:g.31245534A>G GRCh37
NC_000006.10:g.31353513A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000494673.1:n.2186A>G
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