Canonical Allele Identifier: CA389334096
Gene: PRKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626538G>A , CM000676.2:g.29626538G>A GRCh38
NC_000014.8:g.30095744G>A , CM000676.1:g.30095744G>A GRCh37
NC_000014.7:g.29165495G>A NCBI36
NG_052879.1:g.306156C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1515C>T
ENST00000691517.1:n.1028C>T
ENST00000331968.11:c.1744C>T MANE Select ENSP00000333568.6:p.Gln582Ter
ENST00000651571.1:c.1556C>T ENSP00000498919.1:n.1556C>T
ENST00000651616.1:c.1625C>T ENSP00000498661.1:n.1625C>T
ENST00000331968.9:c.1744C>T ENSP00000333568.5:p.Gln582Ter
ENST00000415220.6:c.1768C>T ENSP00000390535.2:p.Gln590Ter
ENST00000616995.4:c.1744C>T ENSP00000482645.1:p.Gln582Ter
NM_002742.2:c.1744C>T NP_002733.2:p.Gln582Ter
XM_005267859.1:c.1768C>T XP_005267916.1:p.Gln590Ter
XM_011536964.1:c.1540C>T XP_011535266.1:p.Gln514Ter
XM_011536965.1:c.1480C>T XP_011535267.1:p.Gln494Ter
XR_943493.1:n.1883C>T
NM_001330069.1:c.1768C>T NP_001316998.1:p.Gln590Ter
NM_001348390.1:c.1480C>T NP_001335319.1:p.Gln494Ter
XM_011536965.2:c.1480C>T XP_011535267.1:p.Gln494Ter
XM_017021462.1:c.1249C>T XP_016876951.1:p.Gln417Ter
XR_943493.2:n.2061C>T
NM_001330069.2:c.1768C>T NP_001316998.1:p.Gln590Ter
NM_002742.3:c.1744C>T MANE Select NP_002733.2:p.Gln582Ter