Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA243945421

Gene: PPP1CC HGNC NCBI

Linked Data

dbSNP Id: rs973089601

gnomAD v3: 12-110717672-A-G

gnomAD v4: 12-110717672-A-G

MyVariant Identifiers: chr12:g.111155477A>G (hg19) chr12:g.110717672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110717672A>G , CM000674.2:g.110717672A>G	GRCh38
NC_000012.11:g.111155477A>G , CM000674.1:g.111155477A>G	GRCh37
NC_000012.10:g.109639860A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011538504.1:c.944-2525T>C	XP_011536806.1:n.944-2525T>C
XM_011538505.1:c.943+3433T>C	XP_011536807.1:n.943+3433T>C
XM_011538504.3:c.944-2525T>C	XP_011536806.1:n.944-2525T>C
XM_011538505.3:c.943+3433T>C	XP_011536807.1:n.943+3433T>C

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