Canonical Allele Identifier: CA2126382303
Community Standard Title: NM_002742.3(PRKD1):c.896T= (p.Leu299=)
Gene: PRKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29638705A= , CM000676.2:g.29638705A= GRCh38
NC_000014.8:g.30107911A= , CM000676.1:g.30107911A= GRCh37
NC_000014.7:g.29177662A= NCBI36
NG_052879.1:g.293989T=

Transcript Alleles

HGVS Amino-acid Change
NM_002742.3:c.896T= MANE Select NP_002733.2:p.Leu299=
ENST00000331968.11:c.896T= MANE Select ENSP00000333568.6:p.Leu299=
NM_001330069.1:c.920T= NP_001316998.1:p.Leu307=
NM_001330069.2:c.920T= NP_001316998.1:p.Leu307=
NM_001348390.1:c.632T= NP_001335319.1:p.Leu211=
NM_002742.2:c.896T= NP_002733.2:p.Leu299=
ENST00000331968.9:c.896T= ENSP00000333568.5:p.Leu299=
ENST00000415220.6:c.920T= ENSP00000390535.2:p.Leu307=
ENST00000468370.5:n.467T=
ENST00000547441.1:n.492T=
ENST00000551644.5:n.419T=
ENST00000616995.4:c.896T= ENSP00000482645.1:p.Leu299=
ENST00000616995.5:n.667T=
ENST00000651571.1:c.708T= ENSP00000498919.1:n.708T=
ENST00000651616.1:c.777T= ENSP00000498661.1:n.777T=
XM_005267859.1:c.920T= XP_005267916.1:p.Leu307=
XM_011536964.1:c.692T= XP_011535266.1:p.Leu231=
XM_011536965.1:c.632T= XP_011535267.1:p.Leu211=
XM_011536965.2:c.632T= XP_011535267.1:p.Leu211=
XM_017021462.1:c.401T= XP_016876951.1:p.Leu134=
XR_943493.1:n.1035T=
XR_943493.2:n.1213T=