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: CA383969332

Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1412434

ClinVar RCV Id: RCV001923246

dbSNP Id: rs2136355737

gnomAD v4: 12-12718025-C-G

MyVariant Identifiers: chr12:g.12870959C>G (hg19) chr12:g.12718025C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718025C>G , CM000674.2:g.12718025C>G	GRCh38
NC_000012.11:g.12870959C>G , CM000674.1:g.12870959C>G	GRCh37
NC_000012.10:g.12762226C>G	NCBI36
NG_016341.1:g.5658C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.186C>G	ENSP00000507272.1:p.Phe62Leu
ENST00000682620.1:n.1631-800C>G
ENST00000684771.1:n.585-800C>G
ENST00000228872.9:c.186C>G MANE Select	ENSP00000228872.4:p.Phe62Leu
ENST00000228872.8:c.186C>G	ENSP00000228872.4:p.Phe62Leu
ENST00000396340.1:c.186C>G	ENSP00000379629.1:p.Phe62Leu
ENST00000442489.1:c.165C>G	ENSP00000407597.1:p.Phe55Leu
ENST00000477087.1:n.155-800C>G
NM_004064.4:c.186C>G	NP_004055.1:p.Phe62Leu
NM_004064.5:c.186C>G MANE Select	NP_004055.1:p.Phe62Leu