Canonical Allele Identifier: CA389335571

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29632945C>T , CM000676.2:g.29632945C>T	GRCh38
NC_000014.8:g.30102151C>T , CM000676.1:g.30102151C>T	GRCh37
NC_000014.7:g.29171902C>T	NCBI36
NG_052879.1:g.299749G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.1316G>A MANE Select	NP_002733.2:p.Arg439Gln
ENST00000331968.11:c.1316G>A MANE Select	ENSP00000333568.6:p.Arg439Gln
NM_001330069.1:c.1340G>A	NP_001316998.1:p.Arg447Gln
NM_001330069.2:c.1340G>A	NP_001316998.1:p.Arg447Gln
NM_001348390.1:c.1052G>A	NP_001335319.1:p.Arg351Gln
NM_002742.2:c.1316G>A	NP_002733.2:p.Arg439Gln
ENST00000331968.9:c.1316G>A	ENSP00000333568.5:p.Arg439Gln
ENST00000415220.6:c.1340G>A	ENSP00000390535.2:p.Arg447Gln
ENST00000546371.1:c.59G>A	ENSP00000447333.1:p.Arg20Gln
ENST00000616995.4:c.1316G>A	ENSP00000482645.1:p.Arg439Gln
ENST00000616995.5:n.1087G>A
ENST00000651571.1:c.1128G>A	ENSP00000498919.1:n.1128G>A
ENST00000651616.1:c.1197G>A	ENSP00000498661.1:n.1197G>A
ENST00000691517.1:n.600G>A
XM_005267859.1:c.1340G>A	XP_005267916.1:p.Arg447Gln
XM_011536964.1:c.1112G>A	XP_011535266.1:p.Arg371Gln
XM_011536965.1:c.1052G>A	XP_011535267.1:p.Arg351Gln
XM_011536965.2:c.1052G>A	XP_011535267.1:p.Arg351Gln
XM_017021462.1:c.821G>A	XP_016876951.1:p.Arg274Gln
XR_943493.1:n.1455G>A
XR_943493.2:n.1633G>A