Canonical Allele Identifier: CA389334003

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095723G>T (hg19) ; chr14:g.29626517G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626517G>T , CM000676.2:g.29626517G>T	GRCh38
NC_000014.8:g.30095723G>T , CM000676.1:g.30095723G>T	GRCh37
NC_000014.7:g.29165474G>T	NCBI36
NG_052879.1:g.306177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1536C>A
ENST00000691517.1:n.1049C>A
ENST00000331968.11:c.1765C>A MANE Select	ENSP00000333568.6:p.Leu589Met
ENST00000651571.1:c.1577C>A	ENSP00000498919.1:n.1577C>A
ENST00000651616.1:c.1646C>A	ENSP00000498661.1:n.1646C>A
ENST00000331968.9:c.1765C>A	ENSP00000333568.5:p.Leu589Met
ENST00000415220.6:c.1789C>A	ENSP00000390535.2:p.Leu597Met
ENST00000616995.4:c.1765C>A	ENSP00000482645.1:p.Leu589Met
NM_002742.2:c.1765C>A	NP_002733.2:p.Leu589Met
XM_005267859.1:c.1789C>A	XP_005267916.1:p.Leu597Met
XM_011536964.1:c.1561C>A	XP_011535266.1:p.Leu521Met
XM_011536965.1:c.1501C>A	XP_011535267.1:p.Leu501Met
XR_943493.1:n.1904C>A
NM_001330069.1:c.1789C>A	NP_001316998.1:p.Leu597Met
NM_001348390.1:c.1501C>A	NP_001335319.1:p.Leu501Met
XM_011536965.2:c.1501C>A	XP_011535267.1:p.Leu501Met
XM_017021462.1:c.1270C>A	XP_016876951.1:p.Leu424Met
XR_943493.2:n.2082C>A
NM_001330069.2:c.1789C>A	NP_001316998.1:p.Leu597Met
NM_002742.3:c.1765C>A MANE Select	NP_002733.2:p.Leu589Met