Canonical Allele Identifier: CA16044436

Gene: PRKD1

Linked Data

• ClinVar Variation Id: 375741
• ClinVar RCV Id: RCV000417210
• dbSNP Id: rs1057519636
• MyVariant Identifiers: chr14:g.30107911A>C (hg19) ; chr14:g.29638705A>C (hg38)
• PubMed: PMID:27479907 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29638705A>C , CM000676.2:g.29638705A>C	GRCh38
NC_000014.8:g.30107911A>C , CM000676.1:g.30107911A>C	GRCh37
NC_000014.7:g.29177662A>C	NCBI36
NG_052879.1:g.293989T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.667T>G
ENST00000331968.11:c.896T>G MANE Select	ENSP00000333568.6:p.Leu299Trp
ENST00000651571.1:c.708T>G	ENSP00000498919.1:n.708T>G
ENST00000651616.1:c.777T>G	ENSP00000498661.1:n.777T>G
ENST00000331968.9:c.896T>G	ENSP00000333568.5:p.Leu299Trp
ENST00000415220.6:c.920T>G	ENSP00000390535.2:p.Leu307Trp
ENST00000468370.5:n.467T>G
ENST00000547441.1:n.492T>G
ENST00000551644.5:n.419T>G
ENST00000616995.4:c.896T>G	ENSP00000482645.1:p.Leu299Trp
NM_002742.2:c.896T>G	NP_002733.2:p.Leu299Trp
XM_005267859.1:c.920T>G	XP_005267916.1:p.Leu307Trp
XM_011536964.1:c.692T>G	XP_011535266.1:p.Leu231Trp
XM_011536965.1:c.632T>G	XP_011535267.1:p.Leu211Trp
XR_943493.1:n.1035T>G
NM_001330069.1:c.920T>G	NP_001316998.1:p.Leu307Trp
NM_001348390.1:c.632T>G	NP_001335319.1:p.Leu211Trp
XM_011536965.2:c.632T>G	XP_011535267.1:p.Leu211Trp
XM_017021462.1:c.401T>G	XP_016876951.1:p.Leu134Trp
XR_943493.2:n.1213T>G
NM_001330069.2:c.920T>G	NP_001316998.1:p.Leu307Trp
NM_002742.3:c.896T>G MANE Select	NP_002733.2:p.Leu299Trp