Canonical Allele Identifier: CA389334039
Gene: PRKD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29626526C>A , CM000676.2:g.29626526C>A GRCh38
NC_000014.8:g.30095732C>A , CM000676.1:g.30095732C>A GRCh37
NC_000014.7:g.29165483C>A NCBI36
NG_052879.1:g.306168G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1527G>T
ENST00000691517.1:n.1040G>T
ENST00000331968.11:c.1756G>T MANE Select ENSP00000333568.6:p.Asp586Tyr
ENST00000651571.1:c.1568G>T ENSP00000498919.1:n.1568G>T
ENST00000651616.1:c.1637G>T ENSP00000498661.1:n.1637G>T
ENST00000331968.9:c.1756G>T ENSP00000333568.5:p.Asp586Tyr
ENST00000415220.6:c.1780G>T ENSP00000390535.2:p.Asp594Tyr
ENST00000616995.4:c.1756G>T ENSP00000482645.1:p.Asp586Tyr
NM_002742.2:c.1756G>T NP_002733.2:p.Asp586Tyr
XM_005267859.1:c.1780G>T XP_005267916.1:p.Asp594Tyr
XM_011536964.1:c.1552G>T XP_011535266.1:p.Asp518Tyr
XM_011536965.1:c.1492G>T XP_011535267.1:p.Asp498Tyr
XR_943493.1:n.1895G>T
NM_001330069.1:c.1780G>T NP_001316998.1:p.Asp594Tyr
NM_001348390.1:c.1492G>T NP_001335319.1:p.Asp498Tyr
XM_011536965.2:c.1492G>T XP_011535267.1:p.Asp498Tyr
XM_017021462.1:c.1261G>T XP_016876951.1:p.Asp421Tyr
XR_943493.2:n.2073G>T
NM_001330069.2:c.1780G>T NP_001316998.1:p.Asp594Tyr
NM_002742.3:c.1756G>T MANE Select NP_002733.2:p.Asp586Tyr