Canonical Allele Identifier: CA395267714
Gene: PRKCB HGNC NCBI

Linked Data

ClinVar Variation Id: 224499
ClinVar RCV Id: RCV000495853
dbSNP Id: rs1131692056
gnomAD v3: 16-23988577-G-T
gnomAD v4: 16-23988577-G-T
MyVariant Identifiers: chr16:g.23999898G>T (hg19) chr16:g.23988577G>T (hg38)
PubMed: PMID:27329761
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23988577G>T , CM000678.2:g.23988577G>T GRCh38
NC_000016.9:g.23999898G>T , CM000678.1:g.23999898G>T GRCh37
NC_000016.8:g.23907399G>T NCBI36
NG_029003.1:g.157599G>T
NG_029003.2:g.157599G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321728.12:c.275G>T ENSP00000318315.7:p.Gly92Val
ENST00000643927.1:c.275G>T MANE Select ENSP00000496129.1:p.Gly92Val
ENST00000647422.1:n.175G>T
ENST00000303531.11:c.275G>T ENSP00000305355.7:p.Gly92Val
ENST00000321728.11:c.275G>T ENSP00000318315.7:p.Gly92Val
ENST00000498739.1:c.-26-104214G>T ENSP00000459227.1:n.-26-104214G>T
NM_002738.6:c.275G>T NP_002729.2:p.Gly92Val
NM_212535.2:c.275G>T NP_997700.1:p.Gly92Val
NM_002738.7:c.275G>T MANE Select NP_002729.2:p.Gly92Val
NM_212535.3:c.275G>T NP_997700.1:p.Gly92Val
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