Canonical Allele Identifier: CA389334107
Gene: PRKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626540T>C , CM000676.2:g.29626540T>C GRCh38
NC_000014.8:g.30095746T>C , CM000676.1:g.30095746T>C GRCh37
NC_000014.7:g.29165497T>C NCBI36
NG_052879.1:g.306154A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1513A>G
ENST00000691517.1:n.1026A>G
ENST00000331968.11:c.1742A>G MANE Select ENSP00000333568.6:p.Tyr581Cys
ENST00000651571.1:c.1554A>G ENSP00000498919.1:n.1554A>G
ENST00000651616.1:c.1623A>G ENSP00000498661.1:n.1623A>G
ENST00000331968.9:c.1742A>G ENSP00000333568.5:p.Tyr581Cys
ENST00000415220.6:c.1766A>G ENSP00000390535.2:p.Tyr589Cys
ENST00000616995.4:c.1742A>G ENSP00000482645.1:p.Tyr581Cys
NM_002742.2:c.1742A>G NP_002733.2:p.Tyr581Cys
XM_005267859.1:c.1766A>G XP_005267916.1:p.Tyr589Cys
XM_011536964.1:c.1538A>G XP_011535266.1:p.Tyr513Cys
XM_011536965.1:c.1478A>G XP_011535267.1:p.Tyr493Cys
XR_943493.1:n.1881A>G
NM_001330069.1:c.1766A>G NP_001316998.1:p.Tyr589Cys
NM_001348390.1:c.1478A>G NP_001335319.1:p.Tyr493Cys
XM_011536965.2:c.1478A>G XP_011535267.1:p.Tyr493Cys
XM_017021462.1:c.1247A>G XP_016876951.1:p.Tyr416Cys
XR_943493.2:n.2059A>G
NM_001330069.2:c.1766A>G NP_001316998.1:p.Tyr589Cys
NM_002742.3:c.1742A>G MANE Select NP_002733.2:p.Tyr581Cys