Canonical Allele Identifier: CA375942758
Gene: PRKCQ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6430813T>G , CM000672.2:g.6430813T>G GRCh38
NC_000010.10:g.6472775T>G , CM000672.1:g.6472775T>G GRCh37
NC_000010.9:g.6512781T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263125.10:c.1962A>C MANE Select ENSP00000263125.5:p.Lys654Asn
ENST00000263125.9:c.1962A>C ENSP00000263125.5:p.Lys654Asn
ENST00000397176.6:c.1773A>C ENSP00000380361.2:p.Lys591Asn
ENST00000539722.5:c.1587A>C ENSP00000441752.1:p.Lys529Asn
ENST00000610727.1:c.1854A>C ENSP00000483428.1:p.Lys618Asn
NM_001242413.2:c.1773A>C NP_001229342.1:p.Lys591Asn
NM_001282644.1:c.1854A>C NP_001269573.1:p.Lys618Asn
NM_001282645.1:c.1587A>C NP_001269574.1:p.Lys529Asn
NM_006257.4:c.1962A>C NP_006248.1:p.Lys654Asn
XM_005252496.3:c.2064A>C XP_005252553.1:p.Lys688Asn
XM_005252497.3:c.2064A>C XP_005252554.1:p.Lys688Asn
XM_006717465.2:c.1962A>C XP_006717528.1:p.Lys654Asn
XM_011519547.1:c.1962A>C XP_011517849.1:p.Lys654Asn
XM_011519548.1:c.1939-2451A>C XP_011517850.1:n.1939-2451A>C
NM_001323265.1:c.1962A>C NP_001310194.1:p.Lys654Asn
NM_001323266.1:c.1587A>C NP_001310195.1:p.Lys529Asn
NM_001323267.1:c.1854A>C NP_001310196.1:p.Lys618Asn
XM_005252496.4:c.2064A>C XP_005252553.1:p.Lys688Asn
XM_005252497.4:c.2064A>C XP_005252554.1:p.Lys688Asn
XM_024448076.1:c.1962A>C XP_024303844.1:p.Lys654Asn
XM_024448077.1:c.1587A>C XP_024303845.1:p.Lys529Asn
NM_001282644.2:c.1854A>C NP_001269573.1:p.Lys618Asn
NM_001323266.2:c.1587A>C NP_001310195.1:p.Lys529Asn
NM_006257.5:c.1962A>C MANE Select NP_006248.1:p.Lys654Asn
NM_001323267.2:c.1854A>C NP_001310196.1:p.Lys618Asn