Canonical Allele Identifier: CA485824959

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095724T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626518T>G , CM000676.2:g.29626518T>G	GRCh38
NC_000014.8:g.30095724T>G , CM000676.1:g.30095724T>G	GRCh37
NC_000014.7:g.29165475T>G	NCBI36
NG_052879.1:g.306176A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000616995.5:n.1535A>C
ENST00000691517.1:n.1048A>C
ENST00000331968.11:c.1764A>C MANE Select	ENSP00000333568.6:p.Val588=
ENST00000651571.1:c.1576A>C	ENSP00000498919.1:n.1576A>C
ENST00000651616.1:c.1645A>C	ENSP00000498661.1:n.1645A>C
ENST00000331968.9:c.1764A>C	ENSP00000333568.5:p.Val588=
ENST00000415220.6:c.1788A>C	ENSP00000390535.2:p.Val596=
ENST00000616995.4:c.1764A>C	ENSP00000482645.1:p.Val588=
NM_002742.2:c.1764A>C	NP_002733.2:p.Val588=
XM_005267859.1:c.1788A>C	XP_005267916.1:p.Val596=
XM_011536964.1:c.1560A>C	XP_011535266.1:p.Val520=
XM_011536965.1:c.1500A>C	XP_011535267.1:p.Val500=
XR_943493.1:n.1903A>C
NM_001330069.1:c.1788A>C	NP_001316998.1:p.Val596=
NM_001348390.1:c.1500A>C	NP_001335319.1:p.Val500=
XM_011536965.2:c.1500A>C	XP_011535267.1:p.Val500=
XM_017021462.1:c.1269A>C	XP_016876951.1:p.Val423=
XR_943493.2:n.2081A>C
NM_001330069.2:c.1788A>C	NP_001316998.1:p.Val596=
NM_002742.3:c.1764A>C MANE Select	NP_002733.2:p.Val588=