Canonical Allele Identifier: CA389334049

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626528G>A , CM000676.2:g.29626528G>A	GRCh38
NC_000014.8:g.30095734G>A , CM000676.1:g.30095734G>A	GRCh37
NC_000014.7:g.29165485G>A	NCBI36
NG_052879.1:g.306166C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.1754C>T MANE Select	NP_002733.2:p.Pro585Leu
ENST00000331968.11:c.1754C>T MANE Select	ENSP00000333568.6:p.Pro585Leu
NM_001330069.1:c.1778C>T	NP_001316998.1:p.Pro593Leu
NM_001330069.2:c.1778C>T	NP_001316998.1:p.Pro593Leu
NM_001348390.1:c.1490C>T	NP_001335319.1:p.Pro497Leu
NM_002742.2:c.1754C>T	NP_002733.2:p.Pro585Leu
ENST00000331968.9:c.1754C>T	ENSP00000333568.5:p.Pro585Leu
ENST00000415220.6:c.1778C>T	ENSP00000390535.2:p.Pro593Leu
ENST00000616995.4:c.1754C>T	ENSP00000482645.1:p.Pro585Leu
ENST00000616995.5:n.1525C>T
ENST00000651571.1:c.1566C>T	ENSP00000498919.1:n.1566C>T
ENST00000651616.1:c.1635C>T	ENSP00000498661.1:n.1635C>T
ENST00000691517.1:n.1038C>T
XM_005267859.1:c.1778C>T	XP_005267916.1:p.Pro593Leu
XM_011536964.1:c.1550C>T	XP_011535266.1:p.Pro517Leu
XM_011536965.1:c.1490C>T	XP_011535267.1:p.Pro497Leu
XM_011536965.2:c.1490C>T	XP_011535267.1:p.Pro497Leu
XM_017021462.1:c.1259C>T	XP_016876951.1:p.Pro420Leu
XR_943493.1:n.1893C>T
XR_943493.2:n.2071C>T