Canonical Allele Identifier: CA171032

Gene: PRKCD

Linked Data

• ClinVar Variation Id: 157674
• ClinVar RCV Id: RCV000144965
• dbSNP Id: rs606231296
• gnomAD v2: 3-53222848-G-A
• gnomAD v4: 3-53188832-G-A
• MyVariant Identifiers: chr3:g.53222848G>A (hg19) ; chr3:g.53188832G>A (hg38)
• PubMed: PMID:23666743

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53188832G>A , CM000665.2:g.53188832G>A	GRCh38
NC_000003.11:g.53222848G>A , CM000665.1:g.53222848G>A	GRCh37
NC_000003.10:g.53197888G>A	NCBI36
NG_033864.1:g.32626G>A
NG_033864.2:g.37824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697588.1:c.*356G>A	ENSP00000513355.1:n.*356G>A
ENST00000697589.1:n.1532G>A
ENST00000697590.1:n.527G>A
ENST00000330452.8:c.1528G>A MANE Select	ENSP00000331602.3:p.Gly510Ser
ENST00000650739.1:c.1528G>A	ENSP00000498623.1:p.Gly510Ser
ENST00000651505.1:c.1269G>A
ENST00000652449.1:c.1528G>A	ENSP00000498400.1:p.Gly510Ser
ENST00000654719.1:c.1528G>A	ENSP00000499558.1:p.Gly510Ser
ENST00000330452.7:c.1528G>A	ENSP00000331602.3:p.Gly510Ser
ENST00000394729.6:c.1528G>A	ENSP00000378217.2:p.Gly510Ser
NM_001316327.1:c.1528G>A	NP_001303256.1:p.Gly510Ser
NM_006254.3:c.1528G>A	NP_006245.2:p.Gly510Ser
NM_212539.1:c.1528G>A	NP_997704.1:p.Gly510Ser
XM_006713257.2:c.1576G>A	XP_006713320.1:p.Gly526Ser
XM_006713259.2:c.1528G>A	XP_006713322.1:p.Gly510Ser
XR_940474.1:n.1446G>A
NM_001354676.1:c.1585G>A	NP_001341605.1:p.Gly529Ser
NM_001354678.1:c.1576G>A	NP_001341607.1:p.Gly526Ser
NM_001354679.1:c.1528G>A	NP_001341608.1:p.Gly510Ser
NM_001354680.1:c.1528G>A	NP_001341609.1:p.Gly510Ser
XR_002959550.1:n.1499G>A
NM_006254.4:c.1528G>A MANE Select	NP_006245.2:p.Gly510Ser
NM_001316327.2:c.1528G>A	NP_001303256.1:p.Gly510Ser
NM_001354676.2:c.1585G>A	NP_001341605.1:p.Gly529Ser
NM_001354678.2:c.1576G>A	NP_001341607.1:p.Gly526Ser
NM_001354679.2:c.1528G>A	NP_001341608.1:p.Gly510Ser
NM_001354680.2:c.1528G>A	NP_001341609.1:p.Gly510Ser
NM_212539.2:c.1528G>A	NP_997704.1:p.Gly510Ser