Canonical Allele Identifier: CA485824960

Gene: PRKD1

Linked Data

• COSMIC: COSM4050407 ; COSM4050408
• MyVariant Identifiers: chr14:g.30095727T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626521T>C , CM000676.2:g.29626521T>C	GRCh38
NC_000014.8:g.30095727T>C , CM000676.1:g.30095727T>C	GRCh37
NC_000014.7:g.29165478T>C	NCBI36
NG_052879.1:g.306173A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1532A>G
ENST00000691517.1:n.1045A>G
ENST00000331968.11:c.1761A>G MANE Select	ENSP00000333568.6:p.Glu587=
ENST00000651571.1:c.1573A>G	ENSP00000498919.1:n.1573A>G
ENST00000651616.1:c.1642A>G	ENSP00000498661.1:n.1642A>G
ENST00000331968.9:c.1761A>G	ENSP00000333568.5:p.Glu587=
ENST00000415220.6:c.1785A>G	ENSP00000390535.2:p.Glu595=
ENST00000616995.4:c.1761A>G	ENSP00000482645.1:p.Glu587=
NM_002742.2:c.1761A>G	NP_002733.2:p.Glu587=
XM_005267859.1:c.1785A>G	XP_005267916.1:p.Glu595=
XM_011536964.1:c.1557A>G	XP_011535266.1:p.Glu519=
XM_011536965.1:c.1497A>G	XP_011535267.1:p.Glu499=
XR_943493.1:n.1900A>G
NM_001330069.1:c.1785A>G	NP_001316998.1:p.Glu595=
NM_001348390.1:c.1497A>G	NP_001335319.1:p.Glu499=
XM_011536965.2:c.1497A>G	XP_011535267.1:p.Glu499=
XM_017021462.1:c.1266A>G	XP_016876951.1:p.Glu422=
XR_943493.2:n.2078A>G
NM_001330069.2:c.1785A>G	NP_001316998.1:p.Glu595=
NM_002742.3:c.1761A>G MANE Select	NP_002733.2:p.Glu587=