Canonical Allele Identifier: CA16044435

Gene: PRKD1

Linked Data

• ClinVar Variation Id: 375740
• ClinVar RCV Id: RCV000417214
• dbSNP Id: rs1057519635
• MyVariant Identifiers: chr14:g.30095714C>T (hg19) ; chr14:g.29626508C>T (hg38)
• PubMed: PMID:27479907 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626508C>T , CM000676.2:g.29626508C>T	GRCh38
NC_000014.8:g.30095714C>T , CM000676.1:g.30095714C>T	GRCh37
NC_000014.7:g.29165465C>T	NCBI36
NG_052879.1:g.306186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1545G>A
ENST00000691517.1:n.1058G>A
ENST00000331968.11:c.1774G>A MANE Select	ENSP00000333568.6:p.Gly592Arg
ENST00000651571.1:c.1586G>A	ENSP00000498919.1:n.1586G>A
ENST00000651616.1:c.1655G>A	ENSP00000498661.1:n.1655G>A
ENST00000331968.9:c.1774G>A	ENSP00000333568.5:p.Gly592Arg
ENST00000415220.6:c.1798G>A	ENSP00000390535.2:p.Gly600Arg
ENST00000616995.4:c.1774G>A	ENSP00000482645.1:p.Gly592Arg
NM_002742.2:c.1774G>A	NP_002733.2:p.Gly592Arg
XM_005267859.1:c.1798G>A	XP_005267916.1:p.Gly600Arg
XM_011536964.1:c.1570G>A	XP_011535266.1:p.Gly524Arg
XM_011536965.1:c.1510G>A	XP_011535267.1:p.Gly504Arg
XR_943493.1:n.1913G>A
NM_001330069.1:c.1798G>A	NP_001316998.1:p.Gly600Arg
NM_001348390.1:c.1510G>A	NP_001335319.1:p.Gly504Arg
XM_011536965.2:c.1510G>A	XP_011535267.1:p.Gly504Arg
XM_017021462.1:c.1279G>A	XP_016876951.1:p.Gly427Arg
XR_943493.2:n.2091G>A
NM_001330069.2:c.1798G>A	NP_001316998.1:p.Gly600Arg
NM_002742.3:c.1774G>A MANE Select	NP_002733.2:p.Gly592Arg