Canonical Allele Identifier: CA2451901
Gene: PRKCD HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53183184C>T , CM000665.2:g.53183184C>T GRCh38
NC_000003.11:g.53217200C>T , CM000665.1:g.53217200C>T GRCh37
NC_000003.10:g.53192240C>T NCBI36
NG_033864.1:g.26978C>T
NG_033864.2:g.32176C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697588.1:c.635C>T ENSP00000513355.1:p.Ala212Val
ENST00000697589.1:n.639C>T
ENST00000330452.8:c.635C>T MANE Select ENSP00000331602.3:p.Ala212Val
ENST00000650739.1:c.635C>T ENSP00000498623.1:p.Ala212Val
ENST00000650940.1:c.635C>T ENSP00000499184.1:p.Ala212Val
ENST00000651505.1:c.267C>T
ENST00000652449.1:c.635C>T ENSP00000498400.1:p.Ala212Val
ENST00000654719.1:c.635C>T ENSP00000499558.1:p.Ala212Val
ENST00000330452.7:c.635C>T ENSP00000331602.3:p.Ala212Val
ENST00000394729.6:c.635C>T ENSP00000378217.2:p.Ala212Val
ENST00000464818.1:c.571+1452C>T ENSP00000419629.1:n.571+1452C>T
NM_001316327.1:c.635C>T NP_001303256.1:p.Ala212Val
NM_006254.3:c.635C>T NP_006245.2:p.Ala212Val
NM_212539.1:c.635C>T NP_997704.1:p.Ala212Val
XM_006713257.2:c.683C>T XP_006713320.1:p.Ala228Val
XM_006713259.2:c.635C>T XP_006713322.1:p.Ala212Val
XR_940474.1:n.654C>T
NM_001354676.1:c.692C>T NP_001341605.1:p.Ala231Val
NM_001354678.1:c.683C>T NP_001341607.1:p.Ala228Val
NM_001354679.1:c.635C>T NP_001341608.1:p.Ala212Val
NM_001354680.1:c.635C>T NP_001341609.1:p.Ala212Val
XR_002959550.1:n.707C>T
NM_006254.4:c.635C>T MANE Select NP_006245.2:p.Ala212Val
NM_001316327.2:c.635C>T NP_001303256.1:p.Ala212Val
NM_001354676.2:c.692C>T NP_001341605.1:p.Ala231Val
NM_001354678.2:c.683C>T NP_001341607.1:p.Ala228Val
NM_001354679.2:c.635C>T NP_001341608.1:p.Ala212Val
NM_001354680.2:c.635C>T NP_001341609.1:p.Ala212Val
NM_212539.2:c.635C>T NP_997704.1:p.Ala212Val