Canonical Allele Identifier: CA485824934
Gene: PRKD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.30095700A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626494A>G , CM000676.2:g.29626494A>G GRCh38
NC_000014.8:g.30095700A>G , CM000676.1:g.30095700A>G GRCh37
NC_000014.7:g.29165451A>G NCBI36
NG_052879.1:g.306200T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1559T>C
ENST00000691517.1:n.1072T>C
ENST00000331968.11:c.1788T>C MANE Select ENSP00000333568.6:p.Ile596=
ENST00000651571.1:c.1600T>C ENSP00000498919.1:n.1600T>C
ENST00000651616.1:c.1669T>C ENSP00000498661.1:n.1669T>C
ENST00000331968.9:c.1788T>C ENSP00000333568.5:p.Ile596=
ENST00000415220.6:c.1812T>C ENSP00000390535.2:p.Ile604=
ENST00000616995.4:c.1788T>C ENSP00000482645.1:p.Ile596=
NM_002742.2:c.1788T>C NP_002733.2:p.Ile596=
XM_005267859.1:c.1812T>C XP_005267916.1:p.Ile604=
XM_011536964.1:c.1584T>C XP_011535266.1:p.Ile528=
XM_011536965.1:c.1524T>C XP_011535267.1:p.Ile508=
XR_943493.1:n.1927T>C
NM_001330069.1:c.1812T>C NP_001316998.1:p.Ile604=
NM_001348390.1:c.1524T>C NP_001335319.1:p.Ile508=
XM_011536965.2:c.1524T>C XP_011535267.1:p.Ile508=
XM_017021462.1:c.1293T>C XP_016876951.1:p.Ile431=
XR_943493.2:n.2105T>C
NM_001330069.2:c.1812T>C NP_001316998.1:p.Ile604=
NM_002742.3:c.1788T>C MANE Select NP_002733.2:p.Ile596=