Canonical Allele Identifier: CA353222800
Community Standard Title: NM_006254.4(PRKCD):c.1384C>T (p.Gln462Ter)
Gene: PRKCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53187371C>T , CM000665.2:g.53187371C>T GRCh38
NC_000003.11:g.53221387C>T , CM000665.1:g.53221387C>T GRCh37
NC_000003.10:g.53196427C>T NCBI36
NG_033864.1:g.31165C>T
NG_033864.2:g.36363C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006254.4:c.1384C>T MANE Select NP_006245.2:p.Gln462Ter
ENST00000330452.8:c.1384C>T MANE Select ENSP00000331602.3:p.Gln462Ter
NM_001316327.1:c.1384C>T NP_001303256.1:p.Gln462Ter
NM_001316327.2:c.1384C>T NP_001303256.1:p.Gln462Ter
NM_001354676.1:c.1441C>T NP_001341605.1:p.Gln481Ter
NM_001354676.2:c.1441C>T NP_001341605.1:p.Gln481Ter
NM_001354678.1:c.1432C>T NP_001341607.1:p.Gln478Ter
NM_001354678.2:c.1432C>T NP_001341607.1:p.Gln478Ter
NM_001354679.1:c.1384C>T NP_001341608.1:p.Gln462Ter
NM_001354679.2:c.1384C>T NP_001341608.1:p.Gln462Ter
NM_001354680.1:c.1384C>T NP_001341609.1:p.Gln462Ter
NM_001354680.2:c.1384C>T NP_001341609.1:p.Gln462Ter
NM_006254.3:c.1384C>T NP_006245.2:p.Gln462Ter
NM_212539.1:c.1384C>T NP_997704.1:p.Gln462Ter
NM_212539.2:c.1384C>T NP_997704.1:p.Gln462Ter
ENST00000330452.7:c.1384C>T ENSP00000331602.3:p.Gln462Ter
ENST00000394729.6:c.1384C>T ENSP00000378217.2:p.Gln462Ter
ENST00000650739.1:c.1384C>T ENSP00000498623.1:p.Gln462Ter
ENST00000651505.1:c.1125C>T
ENST00000652449.1:c.1384C>T ENSP00000498400.1:p.Gln462Ter
ENST00000654719.1:c.1384C>T ENSP00000499558.1:p.Gln462Ter
ENST00000697588.1:c.*212C>T ENSP00000513355.1:n.*212C>T
ENST00000697589.1:n.1388C>T
XM_006713257.2:c.1432C>T XP_006713320.1:p.Gln478Ter
XM_006713259.2:c.1384C>T XP_006713322.1:p.Gln462Ter
XR_002959550.1:n.1355C>T
XR_940474.1:n.1302C>T