Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA449629387

Gene: USP8P1 HGNC NCBI

Linked Data

gnomAD v4: 6-31277572-C-G

MyVariant Identifiers: chr6:g.31245349C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31277572C>G , CM000668.2:g.31277572C>G	GRCh38
NC_000006.11:g.31245349C>G , CM000668.1:g.31245349C>G	GRCh37
NC_000006.10:g.31353328C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000494673.1:n.2001C>G

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