Canonical Allele Identifier: CA389334045
Gene: PRKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626528G>C , CM000676.2:g.29626528G>C GRCh38
NC_000014.8:g.30095734G>C , CM000676.1:g.30095734G>C GRCh37
NC_000014.7:g.29165485G>C NCBI36
NG_052879.1:g.306166C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1525C>G
ENST00000691517.1:n.1038C>G
ENST00000331968.11:c.1754C>G MANE Select ENSP00000333568.6:p.Pro585Arg
ENST00000651571.1:c.1566C>G ENSP00000498919.1:n.1566C>G
ENST00000651616.1:c.1635C>G ENSP00000498661.1:n.1635C>G
ENST00000331968.9:c.1754C>G ENSP00000333568.5:p.Pro585Arg
ENST00000415220.6:c.1778C>G ENSP00000390535.2:p.Pro593Arg
ENST00000616995.4:c.1754C>G ENSP00000482645.1:p.Pro585Arg
NM_002742.2:c.1754C>G NP_002733.2:p.Pro585Arg
XM_005267859.1:c.1778C>G XP_005267916.1:p.Pro593Arg
XM_011536964.1:c.1550C>G XP_011535266.1:p.Pro517Arg
XM_011536965.1:c.1490C>G XP_011535267.1:p.Pro497Arg
XR_943493.1:n.1893C>G
NM_001330069.1:c.1778C>G NP_001316998.1:p.Pro593Arg
NM_001348390.1:c.1490C>G NP_001335319.1:p.Pro497Arg
XM_011536965.2:c.1490C>G XP_011535267.1:p.Pro497Arg
XM_017021462.1:c.1259C>G XP_016876951.1:p.Pro420Arg
XR_943493.2:n.2071C>G
NM_001330069.2:c.1778C>G NP_001316998.1:p.Pro593Arg
NM_002742.3:c.1754C>G MANE Select NP_002733.2:p.Pro585Arg