Canonical Allele Identifier: CA389333965

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095713C>A (hg19) ; chr14:g.29626507C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626507C>A , CM000676.2:g.29626507C>A	GRCh38
NC_000014.8:g.30095713C>A , CM000676.1:g.30095713C>A	GRCh37
NC_000014.7:g.29165464C>A	NCBI36
NG_052879.1:g.306187G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1546G>T
ENST00000691517.1:n.1059G>T
ENST00000331968.11:c.1775G>T MANE Select	ENSP00000333568.6:p.Gly592Val
ENST00000651571.1:c.1587G>T	ENSP00000498919.1:n.1587G>T
ENST00000651616.1:c.1656G>T	ENSP00000498661.1:n.1656G>T
ENST00000331968.9:c.1775G>T	ENSP00000333568.5:p.Gly592Val
ENST00000415220.6:c.1799G>T	ENSP00000390535.2:p.Gly600Val
ENST00000616995.4:c.1775G>T	ENSP00000482645.1:p.Gly592Val
NM_002742.2:c.1775G>T	NP_002733.2:p.Gly592Val
XM_005267859.1:c.1799G>T	XP_005267916.1:p.Gly600Val
XM_011536964.1:c.1571G>T	XP_011535266.1:p.Gly524Val
XM_011536965.1:c.1511G>T	XP_011535267.1:p.Gly504Val
XR_943493.1:n.1914G>T
NM_001330069.1:c.1799G>T	NP_001316998.1:p.Gly600Val
NM_001348390.1:c.1511G>T	NP_001335319.1:p.Gly504Val
XM_011536965.2:c.1511G>T	XP_011535267.1:p.Gly504Val
XM_017021462.1:c.1280G>T	XP_016876951.1:p.Gly427Val
XR_943493.2:n.2092G>T
NM_001330069.2:c.1799G>T	NP_001316998.1:p.Gly600Val
NM_002742.3:c.1775G>T MANE Select	NP_002733.2:p.Gly592Val