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.

ClinGen Allele Registry

Canonical Allele Identifier: CA383970590

Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 656728

ClinVar RCV Id: RCV003372869

dbSNP Id: rs1592281202

gnomAD v4: 12-12718234-A-G

MyVariant Identifiers: chr12:g.12871168A>G (hg19) chr12:g.12718234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718234A>G , CM000674.2:g.12718234A>G	GRCh38
NC_000012.11:g.12871168A>G , CM000674.1:g.12871168A>G	GRCh37
NC_000012.10:g.12762435A>G	NCBI36
NG_016341.1:g.5867A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.395A>G	ENSP00000507272.1:p.Asp132Gly
ENST00000682620.1:n.1631-591A>G
ENST00000684771.1:n.585-591A>G
ENST00000228872.9:c.395A>G MANE Select	ENSP00000228872.4:p.Asp132Gly
ENST00000228872.8:c.395A>G	ENSP00000228872.4:p.Asp132Gly
ENST00000396340.1:c.395A>G	ENSP00000379629.1:p.Asp132Gly
ENST00000442489.1:c.193+181A>G	ENSP00000407597.1:n.193+181A>G
ENST00000477087.1:n.155-591A>G
NM_004064.4:c.395A>G	NP_004055.1:p.Asp132Gly
NM_004064.5:c.395A>G MANE Select	NP_004055.1:p.Asp132Gly