Canonical Allele Identifier: CA389333972

Gene: PRKD1

Linked Data

• COSMIC: COSM6324221 ; COSM6324222
• MyVariant Identifiers: chr14:g.30095716G>A (hg19) ; chr14:g.29626510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626510G>A , CM000676.2:g.29626510G>A	GRCh38
NC_000014.8:g.30095716G>A , CM000676.1:g.30095716G>A	GRCh37
NC_000014.7:g.29165467G>A	NCBI36
NG_052879.1:g.306184C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000616995.5:n.1543C>T
ENST00000691517.1:n.1056C>T
ENST00000331968.11:c.1772C>T MANE Select	ENSP00000333568.6:p.Ser591Phe
ENST00000651571.1:c.1584C>T	ENSP00000498919.1:n.1584C>T
ENST00000651616.1:c.1653C>T	ENSP00000498661.1:n.1653C>T
ENST00000331968.9:c.1772C>T	ENSP00000333568.5:p.Ser591Phe
ENST00000415220.6:c.1796C>T	ENSP00000390535.2:p.Ser599Phe
ENST00000616995.4:c.1772C>T	ENSP00000482645.1:p.Ser591Phe
NM_002742.2:c.1772C>T	NP_002733.2:p.Ser591Phe
XM_005267859.1:c.1796C>T	XP_005267916.1:p.Ser599Phe
XM_011536964.1:c.1568C>T	XP_011535266.1:p.Ser523Phe
XM_011536965.1:c.1508C>T	XP_011535267.1:p.Ser503Phe
XR_943493.1:n.1911C>T
NM_001330069.1:c.1796C>T	NP_001316998.1:p.Ser599Phe
NM_001348390.1:c.1508C>T	NP_001335319.1:p.Ser503Phe
XM_011536965.2:c.1508C>T	XP_011535267.1:p.Ser503Phe
XM_017021462.1:c.1277C>T	XP_016876951.1:p.Ser426Phe
XR_943493.2:n.2089C>T
NM_001330069.2:c.1796C>T	NP_001316998.1:p.Ser599Phe
NM_002742.3:c.1772C>T MANE Select	NP_002733.2:p.Ser591Phe