Canonical Allele Identifier: CA5399048

Gene: PRKCQ

Linked Data

• dbSNP Id: rs756736437
• ExAC: 10:6472744 A / G
• gnomAD v2: 10-6472744-A-G
• gnomAD v3: 10-6430782-A-G
• gnomAD v4: 10-6430782-A-G
• MyVariant Identifiers: chr10:g.6472744A>G (hg19) ; chr10:g.6430782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.6430782A>G , CM000672.2:g.6430782A>G	GRCh38
NC_000010.10:g.6472744A>G , CM000672.1:g.6472744A>G	GRCh37
NC_000010.9:g.6512750A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263125.10:c.1965+28T>C MANE Select	ENSP00000263125.5:n.1965+28T>C
ENST00000263125.9:c.1965+28T>C	ENSP00000263125.5:n.1965+28T>C
ENST00000397176.6:c.1776+28T>C	ENSP00000380361.2:n.1776+28T>C
ENST00000539722.5:c.1590+28T>C	ENSP00000441752.1:n.1590+28T>C
ENST00000610727.1:c.1857+28T>C	ENSP00000483428.1:n.1857+28T>C
NM_001242413.2:c.1776+28T>C	NP_001229342.1:n.1776+28T>C
NM_001282644.1:c.1857+28T>C	NP_001269573.1:n.1857+28T>C
NM_001282645.1:c.1590+28T>C	NP_001269574.1:n.1590+28T>C
NM_006257.4:c.1965+28T>C	NP_006248.1:n.1965+28T>C
XM_005252496.3:c.2067+28T>C	XP_005252553.1:n.2067+28T>C
XM_005252497.3:c.2067+28T>C	XP_005252554.1:n.2067+28T>C
XM_006717465.2:c.1965+28T>C	XP_006717528.1:n.1965+28T>C
XM_011519547.1:c.1965+28T>C	XP_011517849.1:n.1965+28T>C
XM_011519548.1:c.1939-2420T>C	XP_011517850.1:n.1939-2420T>C
NM_001323265.1:c.1965+28T>C	NP_001310194.1:n.1965+28T>C
NM_001323266.1:c.1590+28T>C	NP_001310195.1:n.1590+28T>C
NM_001323267.1:c.1857+28T>C	NP_001310196.1:n.1857+28T>C
XM_005252496.4:c.2067+28T>C	XP_005252553.1:n.2067+28T>C
XM_005252497.4:c.2067+28T>C	XP_005252554.1:n.2067+28T>C
XM_024448076.1:c.1965+28T>C	XP_024303844.1:n.1965+28T>C
XM_024448077.1:c.1590+28T>C	XP_024303845.1:n.1590+28T>C
NM_001282644.2:c.1857+28T>C	NP_001269573.1:n.1857+28T>C
NM_001323266.2:c.1590+28T>C	NP_001310195.1:n.1590+28T>C
NM_006257.5:c.1965+28T>C MANE Select	NP_006248.1:n.1965+28T>C
NM_001323267.2:c.1857+28T>C	NP_001310196.1:n.1857+28T>C