Canonical Allele Identifier: CA389334072

Gene: PRKD1

Linked Data

• dbSNP Id: rs1879635135
• gnomAD v3: 14-29626533-A-C
• gnomAD v4: 14-29626533-A-C
• MyVariant Identifiers: chr14:g.30095739A>C (hg19) ; chr14:g.29626533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626533A>C , CM000676.2:g.29626533A>C	GRCh38
NC_000014.8:g.30095739A>C , CM000676.1:g.30095739A>C	GRCh37
NC_000014.7:g.29165490A>C	NCBI36
NG_052879.1:g.306161T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1520T>G
ENST00000691517.1:n.1033T>G
ENST00000331968.11:c.1749T>G MANE Select	ENSP00000333568.6:p.Ile583Met
ENST00000651571.1:c.1561T>G	ENSP00000498919.1:n.1561T>G
ENST00000651616.1:c.1630T>G	ENSP00000498661.1:n.1630T>G
ENST00000331968.9:c.1749T>G	ENSP00000333568.5:p.Ile583Met
ENST00000415220.6:c.1773T>G	ENSP00000390535.2:p.Ile591Met
ENST00000616995.4:c.1749T>G	ENSP00000482645.1:p.Ile583Met
NM_002742.2:c.1749T>G	NP_002733.2:p.Ile583Met
XM_005267859.1:c.1773T>G	XP_005267916.1:p.Ile591Met
XM_011536964.1:c.1545T>G	XP_011535266.1:p.Ile515Met
XM_011536965.1:c.1485T>G	XP_011535267.1:p.Ile495Met
XR_943493.1:n.1888T>G
NM_001330069.1:c.1773T>G	NP_001316998.1:p.Ile591Met
NM_001348390.1:c.1485T>G	NP_001335319.1:p.Ile495Met
XM_011536965.2:c.1485T>G	XP_011535267.1:p.Ile495Met
XM_017021462.1:c.1254T>G	XP_016876951.1:p.Ile418Met
XR_943493.2:n.2066T>G
NM_001330069.2:c.1773T>G	NP_001316998.1:p.Ile591Met
NM_002742.3:c.1749T>G MANE Select	NP_002733.2:p.Ile583Met