Canonical Allele Identifier: CA2452199
Community Standard Title: NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp)
Gene: PRKCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53188751C>T , CM000665.2:g.53188751C>T GRCh38
NC_000003.11:g.53222767C>T , CM000665.1:g.53222767C>T GRCh37
NC_000003.10:g.53197807C>T NCBI36
NG_033864.1:g.32545C>T
NG_033864.2:g.37743C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006254.4:c.1447C>T MANE Select NP_006245.2:p.Arg483Trp
ENST00000330452.8:c.1447C>T MANE Select ENSP00000331602.3:p.Arg483Trp
NM_001316327.1:c.1447C>T NP_001303256.1:p.Arg483Trp
NM_001316327.2:c.1447C>T NP_001303256.1:p.Arg483Trp
NM_001354676.1:c.1504C>T NP_001341605.1:p.Arg502Trp
NM_001354676.2:c.1504C>T NP_001341605.1:p.Arg502Trp
NM_001354678.1:c.1495C>T NP_001341607.1:p.Arg499Trp
NM_001354678.2:c.1495C>T NP_001341607.1:p.Arg499Trp
NM_001354679.1:c.1447C>T NP_001341608.1:p.Arg483Trp
NM_001354679.2:c.1447C>T NP_001341608.1:p.Arg483Trp
NM_001354680.1:c.1447C>T NP_001341609.1:p.Arg483Trp
NM_001354680.2:c.1447C>T NP_001341609.1:p.Arg483Trp
NM_006254.3:c.1447C>T NP_006245.2:p.Arg483Trp
NM_212539.1:c.1447C>T NP_997704.1:p.Arg483Trp
NM_212539.2:c.1447C>T NP_997704.1:p.Arg483Trp
ENST00000330452.7:c.1447C>T ENSP00000331602.3:p.Arg483Trp
ENST00000394729.6:c.1447C>T ENSP00000378217.2:p.Arg483Trp
ENST00000650739.1:c.1447C>T ENSP00000498623.1:p.Arg483Trp
ENST00000651505.1:c.1188C>T
ENST00000652449.1:c.1447C>T ENSP00000498400.1:p.Arg483Trp
ENST00000654719.1:c.1447C>T ENSP00000499558.1:p.Arg483Trp
ENST00000697588.1:c.*275C>T ENSP00000513355.1:n.*275C>T
ENST00000697589.1:n.1451C>T
ENST00000697590.1:n.446C>T
XM_006713257.2:c.1495C>T XP_006713320.1:p.Arg499Trp
XM_006713259.2:c.1447C>T XP_006713322.1:p.Arg483Trp
XR_002959550.1:n.1418C>T
XR_940474.1:n.1365C>T