Canonical Allele Identifier: CA15631029
Gene: PRKCQ HGNC NCBI

Linked Data

dbSNP Id: rs500766
gnomAD v2: 10-6550590-C-T
gnomAD v3: 10-6508628-C-T
gnomAD v4: 10-6508628-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.6508628C>T , CM000672.2:g.6508628C>T GRCh38
NC_000010.10:g.6550590C>T , CM000672.1:g.6550590C>T GRCh37
NC_000010.9:g.6590596C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000263125.10:c.319-1132G>A MANE Select ENSP00000263125.5:n.319-1132G>A
ENST00000263125.9:c.319-1132G>A ENSP00000263125.5:n.319-1132G>A
ENST00000397176.6:c.319-1132G>A ENSP00000380361.2:n.319-1132G>A
ENST00000539722.5:c.4+2367G>A ENSP00000441752.1:n.4+2367G>A
ENST00000610727.1:c.211-1132G>A ENSP00000483428.1:n.211-1132G>A
NM_001242413.2:c.319-1132G>A NP_001229342.1:n.319-1132G>A
NM_001282644.1:c.211-1132G>A NP_001269573.1:n.211-1132G>A
NM_001282645.1:c.4+2367G>A NP_001269574.1:n.4+2367G>A
NM_006257.4:c.319-1132G>A NP_006248.1:n.319-1132G>A
XM_005252496.3:c.421-1132G>A XP_005252553.1:n.421-1132G>A
XM_005252497.3:c.421-1132G>A XP_005252554.1:n.421-1132G>A
XM_006717465.2:c.319-1132G>A XP_006717528.1:n.319-1132G>A
XM_011519547.1:c.319-1132G>A XP_011517849.1:n.319-1132G>A
XM_011519548.1:c.421-1132G>A XP_011517850.1:n.421-1132G>A
NM_001323265.1:c.319-1132G>A NP_001310194.1:n.319-1132G>A
NM_001323266.1:c.4+2367G>A NP_001310195.1:n.4+2367G>A
NM_001323267.1:c.211-1132G>A NP_001310196.1:n.211-1132G>A
XM_005252496.4:c.421-1132G>A XP_005252553.1:n.421-1132G>A
XM_005252497.4:c.421-1132G>A XP_005252554.1:n.421-1132G>A
XM_024448076.1:c.319-1132G>A XP_024303844.1:n.319-1132G>A
XM_024448077.1:c.4+2367G>A XP_024303845.1:n.4+2367G>A
NM_001282644.2:c.211-1132G>A NP_001269573.1:n.211-1132G>A
NM_001323266.2:c.4+2367G>A NP_001310195.1:n.4+2367G>A
NM_006257.5:c.319-1132G>A MANE Select NP_006248.1:n.319-1132G>A
NM_001323267.2:c.211-1132G>A NP_001310196.1:n.211-1132G>A