Canonical Allele Identifier: CA468047396

Gene: PRKCQ

Linked Data

• dbSNP Id: rs1368867765
• gnomAD v2: 10-6472898-G-A
• gnomAD v3: 10-6430936-G-A
• gnomAD v4: 10-6430936-G-A
• MyVariant Identifiers: chr10:g.6472898G>A (hg19) ; chr10:g.6430936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.6430936G>A , CM000672.2:g.6430936G>A	GRCh38
NC_000010.10:g.6472898G>A , CM000672.1:g.6472898G>A	GRCh37
NC_000010.9:g.6512904G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000263125.10:c.1839C>T MANE Select	ENSP00000263125.5:p.Leu613=
ENST00000263125.9:c.1839C>T	ENSP00000263125.5:p.Leu613=
ENST00000397176.6:c.1650C>T	ENSP00000380361.2:p.Leu550=
ENST00000539722.5:c.1464C>T	ENSP00000441752.1:p.Leu488=
ENST00000610727.1:c.1731C>T	ENSP00000483428.1:p.Leu577=
NM_001242413.2:c.1650C>T	NP_001229342.1:p.Leu550=
NM_001282644.1:c.1731C>T	NP_001269573.1:p.Leu577=
NM_001282645.1:c.1464C>T	NP_001269574.1:p.Leu488=
NM_006257.4:c.1839C>T	NP_006248.1:p.Leu613=
XM_005252496.3:c.1941C>T	XP_005252553.1:p.Leu647=
XM_005252497.3:c.1941C>T	XP_005252554.1:p.Leu647=
XM_006717465.2:c.1839C>T	XP_006717528.1:p.Leu613=
XM_011519547.1:c.1839C>T	XP_011517849.1:p.Leu613=
XM_011519548.1:c.1939-2574C>T	XP_011517850.1:n.1939-2574C>T
NM_001323265.1:c.1839C>T	NP_001310194.1:p.Leu613=
NM_001323266.1:c.1464C>T	NP_001310195.1:p.Leu488=
NM_001323267.1:c.1731C>T	NP_001310196.1:p.Leu577=
XM_005252496.4:c.1941C>T	XP_005252553.1:p.Leu647=
XM_005252497.4:c.1941C>T	XP_005252554.1:p.Leu647=
XM_024448076.1:c.1839C>T	XP_024303844.1:p.Leu613=
XM_024448077.1:c.1464C>T	XP_024303845.1:p.Leu488=
NM_001282644.2:c.1731C>T	NP_001269573.1:p.Leu577=
NM_001323266.2:c.1464C>T	NP_001310195.1:p.Leu488=
NM_006257.5:c.1839C>T MANE Select	NP_006248.1:p.Leu613=
NM_001323267.2:c.1731C>T	NP_001310196.1:p.Leu577=