Canonical Allele Identifier: CA171034
Gene: PRKCD HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53189969C>T , CM000665.2:g.53189969C>T GRCh38
NC_000003.11:g.53223985C>T , CM000665.1:g.53223985C>T GRCh37
NC_000003.10:g.53199025C>T NCBI36
NG_033864.1:g.33763C>T
NG_033864.2:g.38961C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697588.1:c.*668C>T ENSP00000513355.1:n.*668C>T
ENST00000697589.1:n.1844C>T
ENST00000697590.1:n.839C>T
ENST00000330452.8:c.1840C>T MANE Select ENSP00000331602.3:p.Arg614Trp
ENST00000650739.1:c.1840C>T ENSP00000498623.1:p.Arg614Trp
ENST00000651505.1:c.1581C>T
ENST00000652449.1:c.1840C>T ENSP00000498400.1:p.Arg614Trp
ENST00000654719.1:c.1840C>T ENSP00000499558.1:p.Arg614Trp
ENST00000330452.7:c.1840C>T ENSP00000331602.3:p.Arg614Trp
ENST00000394729.6:c.1840C>T ENSP00000378217.2:p.Arg614Trp
NM_001316327.1:c.1840C>T NP_001303256.1:p.Arg614Trp
NM_006254.3:c.1840C>T NP_006245.2:p.Arg614Trp
NM_212539.1:c.1840C>T NP_997704.1:p.Arg614Trp
XM_006713257.2:c.1888C>T XP_006713320.1:p.Arg630Trp
XM_006713259.2:c.1840C>T XP_006713322.1:p.Arg614Trp
XR_940474.1:n.1758C>T
NM_001354676.1:c.1897C>T NP_001341605.1:p.Arg633Trp
NM_001354678.1:c.1888C>T NP_001341607.1:p.Arg630Trp
NM_001354679.1:c.1840C>T NP_001341608.1:p.Arg614Trp
NM_001354680.1:c.1840C>T NP_001341609.1:p.Arg614Trp
XR_002959550.1:n.1811C>T
NM_006254.4:c.1840C>T MANE Select NP_006245.2:p.Arg614Trp
NM_001316327.2:c.1840C>T NP_001303256.1:p.Arg614Trp
NM_001354676.2:c.1897C>T NP_001341605.1:p.Arg633Trp
NM_001354678.2:c.1888C>T NP_001341607.1:p.Arg630Trp
NM_001354679.2:c.1840C>T NP_001341608.1:p.Arg614Trp
NM_001354680.2:c.1840C>T NP_001341609.1:p.Arg614Trp
NM_212539.2:c.1840C>T NP_997704.1:p.Arg614Trp