Canonical Allele Identifier: CA389477578

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29666167G>C , CM000676.2:g.29666167G>C	GRCh38
NC_000014.8:g.30135373G>C , CM000676.1:g.30135373G>C	GRCh37
NC_000014.7:g.29205124G>C	NCBI36
NG_052879.1:g.266527C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.445C>G MANE Select	NP_002733.2:p.Leu149Val
ENST00000331968.11:c.445C>G MANE Select	ENSP00000333568.6:p.Leu149Val
NM_001330069.1:c.445C>G	NP_001316998.1:p.Leu149Val
NM_001330069.2:c.445C>G	NP_001316998.1:p.Leu149Val
NM_001348390.1:c.157C>G	NP_001335319.1:p.Leu53Val
NM_002742.2:c.445C>G	NP_002733.2:p.Leu149Val
ENST00000331968.9:c.445C>G	ENSP00000333568.5:p.Leu149Val
ENST00000415220.6:c.445C>G	ENSP00000390535.2:p.Leu149Val
ENST00000549503.1:c.214C>G	ENSP00000446866.1:p.Leu72Val
ENST00000616995.4:c.445C>G	ENSP00000482645.1:p.Leu149Val
ENST00000616995.5:n.216C>G
ENST00000651571.1:c.257C>G	ENSP00000498919.1:n.257C>G
ENST00000651616.1:c.181C>G	ENSP00000498661.1:p.Leu61Val
XM_005267859.1:c.445C>G	XP_005267916.1:p.Leu149Val
XM_011536964.1:c.217C>G	XP_011535266.1:p.Leu73Val
XM_011536965.1:c.157C>G	XP_011535267.1:p.Leu53Val
XM_011536965.2:c.157C>G	XP_011535267.1:p.Leu53Val
XM_017021462.1:c.-51C>G	XP_016876951.1:n.-51C>G
XR_943493.1:n.560C>G
XR_943493.2:n.738C>G