Canonical Allele Identifier: CA389333890

Gene: PRKD1

Linked Data

• ClinVar Variation Id: 2572890
• ClinVar RCV Id: RCV003315004
• MyVariant Identifiers: chr14:g.30095696A>C (hg19) ; chr14:g.29626490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626490A>C , CM000676.2:g.29626490A>C	GRCh38
NC_000014.8:g.30095696A>C , CM000676.1:g.30095696A>C	GRCh37
NC_000014.7:g.29165447A>C	NCBI36
NG_052879.1:g.306204T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1563T>G
ENST00000691517.1:n.1076T>G
ENST00000331968.11:c.1792T>G MANE Select	ENSP00000333568.6:p.Tyr598Asp
ENST00000651571.1:c.1604T>G	ENSP00000498919.1:n.1604T>G
ENST00000651616.1:c.1673T>G	ENSP00000498661.1:n.1673T>G
ENST00000331968.9:c.1792T>G	ENSP00000333568.5:p.Tyr598Asp
ENST00000415220.6:c.1816T>G	ENSP00000390535.2:p.Tyr606Asp
ENST00000616995.4:c.1792T>G	ENSP00000482645.1:p.Tyr598Asp
NM_002742.2:c.1792T>G	NP_002733.2:p.Tyr598Asp
XM_005267859.1:c.1816T>G	XP_005267916.1:p.Tyr606Asp
XM_011536964.1:c.1588T>G	XP_011535266.1:p.Tyr530Asp
XM_011536965.1:c.1528T>G	XP_011535267.1:p.Tyr510Asp
XR_943493.1:n.1931T>G
NM_001330069.1:c.1816T>G	NP_001316998.1:p.Tyr606Asp
NM_001348390.1:c.1528T>G	NP_001335319.1:p.Tyr510Asp
XM_011536965.2:c.1528T>G	XP_011535267.1:p.Tyr510Asp
XM_017021462.1:c.1297T>G	XP_016876951.1:p.Tyr433Asp
XR_943493.2:n.2109T>G
NM_001330069.2:c.1816T>G	NP_001316998.1:p.Tyr606Asp
NM_002742.3:c.1792T>G MANE Select	NP_002733.2:p.Tyr598Asp