Canonical Allele Identifier: CA257951479

Gene: PRKD1

Linked Data

• dbSNP Id: rs1028931732
• gnomAD v3: 14-29626520-C-T
• gnomAD v4: 14-29626520-C-T
• MyVariant Identifiers: chr14:g.30095726C>T (hg19) ; chr14:g.29626520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626520C>T , CM000676.2:g.29626520C>T	GRCh38
NC_000014.8:g.30095726C>T , CM000676.1:g.30095726C>T	GRCh37
NC_000014.7:g.29165477C>T	NCBI36
NG_052879.1:g.306174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1533G>A
ENST00000691517.1:n.1046G>A
ENST00000331968.11:c.1762G>A MANE Select	ENSP00000333568.6:p.Val588Ile
ENST00000651571.1:c.1574G>A	ENSP00000498919.1:n.1574G>A
ENST00000651616.1:c.1643G>A	ENSP00000498661.1:n.1643G>A
ENST00000331968.9:c.1762G>A	ENSP00000333568.5:p.Val588Ile
ENST00000415220.6:c.1786G>A	ENSP00000390535.2:p.Val596Ile
ENST00000616995.4:c.1762G>A	ENSP00000482645.1:p.Val588Ile
NM_002742.2:c.1762G>A	NP_002733.2:p.Val588Ile
XM_005267859.1:c.1786G>A	XP_005267916.1:p.Val596Ile
XM_011536964.1:c.1558G>A	XP_011535266.1:p.Val520Ile
XM_011536965.1:c.1498G>A	XP_011535267.1:p.Val500Ile
XR_943493.1:n.1901G>A
NM_001330069.1:c.1786G>A	NP_001316998.1:p.Val596Ile
NM_001348390.1:c.1498G>A	NP_001335319.1:p.Val500Ile
XM_011536965.2:c.1498G>A	XP_011535267.1:p.Val500Ile
XM_017021462.1:c.1267G>A	XP_016876951.1:p.Val423Ile
XR_943493.2:n.2079G>A
NM_001330069.2:c.1786G>A	NP_001316998.1:p.Val596Ile
NM_002742.3:c.1762G>A MANE Select	NP_002733.2:p.Val588Ile