Canonical Allele Identifier: CA389334001

Gene: PRKD1

Linked Data

• gnomAD v4: 14-29626517-G-C
• MyVariant Identifiers: chr14:g.30095723G>C (hg19) ; chr14:g.29626517G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000616995.5:n.1536C>G
ENST00000691517.1:n.1049C>G
ENST00000331968.11:c.1765C>G MANE Select	ENSP00000333568.6:p.Leu589Val
ENST00000651571.1:c.1577C>G	ENSP00000498919.1:n.1577C>G
ENST00000651616.1:c.1646C>G	ENSP00000498661.1:n.1646C>G
ENST00000331968.9:c.1765C>G	ENSP00000333568.5:p.Leu589Val
ENST00000415220.6:c.1789C>G	ENSP00000390535.2:p.Leu597Val
ENST00000616995.4:c.1765C>G	ENSP00000482645.1:p.Leu589Val
NM_002742.2:c.1765C>G	NP_002733.2:p.Leu589Val
XM_005267859.1:c.1789C>G	XP_005267916.1:p.Leu597Val
XM_011536964.1:c.1561C>G	XP_011535266.1:p.Leu521Val
XM_011536965.1:c.1501C>G	XP_011535267.1:p.Leu501Val
XR_943493.1:n.1904C>G
NM_001330069.1:c.1789C>G	NP_001316998.1:p.Leu597Val
NM_001348390.1:c.1501C>G	NP_001335319.1:p.Leu501Val
XM_011536965.2:c.1501C>G	XP_011535267.1:p.Leu501Val
XM_017021462.1:c.1270C>G	XP_016876951.1:p.Leu424Val
XR_943493.2:n.2082C>G
NM_001330069.2:c.1789C>G	NP_001316998.1:p.Leu597Val
NM_002742.3:c.1765C>G MANE Select	NP_002733.2:p.Leu589Val