Canonical Allele Identifier: CA389333873

Gene: PRKD1

Linked Data

• gnomAD v4: 14-29626487-C-T
• MyVariant Identifiers: chr14:g.30095693C>T (hg19) ; chr14:g.29626487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626487C>T , CM000676.2:g.29626487C>T	GRCh38
NC_000014.8:g.30095693C>T , CM000676.1:g.30095693C>T	GRCh37
NC_000014.7:g.29165444C>T	NCBI36
NG_052879.1:g.306207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1566G>A
ENST00000691517.1:n.1079G>A
ENST00000331968.11:c.1795G>A MANE Select	ENSP00000333568.6:p.Gly599Arg
ENST00000651571.1:c.1607G>A	ENSP00000498919.1:n.1607G>A
ENST00000651616.1:c.1676G>A	ENSP00000498661.1:n.1676G>A
ENST00000331968.9:c.1795G>A	ENSP00000333568.5:p.Gly599Arg
ENST00000415220.6:c.1819G>A	ENSP00000390535.2:p.Gly607Arg
ENST00000616995.4:c.1795G>A	ENSP00000482645.1:p.Gly599Arg
NM_002742.2:c.1795G>A	NP_002733.2:p.Gly599Arg
XM_005267859.1:c.1819G>A	XP_005267916.1:p.Gly607Arg
XM_011536964.1:c.1591G>A	XP_011535266.1:p.Gly531Arg
XM_011536965.1:c.1531G>A	XP_011535267.1:p.Gly511Arg
XR_943493.1:n.1934G>A
NM_001330069.1:c.1819G>A	NP_001316998.1:p.Gly607Arg
NM_001348390.1:c.1531G>A	NP_001335319.1:p.Gly511Arg
XM_011536965.2:c.1531G>A	XP_011535267.1:p.Gly511Arg
XM_017021462.1:c.1300G>A	XP_016876951.1:p.Gly434Arg
XR_943493.2:n.2112G>A
NM_001330069.2:c.1819G>A	NP_001316998.1:p.Gly607Arg
NM_002742.3:c.1795G>A MANE Select	NP_002733.2:p.Gly599Arg