Canonical Allele Identifier: CA389331959

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29597752G>A , CM000676.2:g.29597752G>A	GRCh38
NC_000014.8:g.30066958G>A , CM000676.1:g.30066958G>A	GRCh37
NC_000014.7:g.29136709G>A	NCBI36
NG_052879.1:g.334942C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.2173C>T MANE Select	NP_002733.2:p.Leu725Phe
ENST00000331968.11:c.2173C>T MANE Select	ENSP00000333568.6:p.Leu725Phe
NM_001330069.1:c.2197C>T	NP_001316998.1:p.Leu733Phe
NM_001330069.2:c.2197C>T	NP_001316998.1:p.Leu733Phe
NM_001348390.1:c.1909C>T	NP_001335319.1:p.Leu637Phe
NM_002742.2:c.2173C>T	NP_002733.2:p.Leu725Phe
ENST00000331968.9:c.2173C>T	ENSP00000333568.5:p.Leu725Phe
ENST00000415220.6:c.2197C>T	ENSP00000390535.2:p.Leu733Phe
ENST00000616995.4:c.2173C>T	ENSP00000482645.1:p.Leu725Phe
ENST00000616995.5:n.1944C>T
ENST00000651571.1:c.1985C>T	ENSP00000498919.1:n.1985C>T
ENST00000651616.1:c.2054C>T	ENSP00000498661.1:n.2054C>T
ENST00000691517.1:n.1457C>T
XM_005267859.1:c.2197C>T	XP_005267916.1:p.Leu733Phe
XM_011536964.1:c.1969C>T	XP_011535266.1:p.Leu657Phe
XM_011536965.1:c.1909C>T	XP_011535267.1:p.Leu637Phe
XM_011536965.2:c.1909C>T	XP_011535267.1:p.Leu637Phe
XM_017021462.1:c.1678C>T	XP_016876951.1:p.Leu560Phe
XR_943493.1:n.2312C>T
XR_943493.2:n.2490C>T