Canonical Allele Identifier: CA389332486

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29599776A>T , CM000676.2:g.29599776A>T	GRCh38
NC_000014.8:g.30068982A>T , CM000676.1:g.30068982A>T	GRCh37
NC_000014.7:g.29138733A>T	NCBI36
NG_052879.1:g.332918T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.1947T>A MANE Select	NP_002733.2:p.Phe649Leu
ENST00000331968.11:c.1947T>A MANE Select	ENSP00000333568.6:p.Phe649Leu
NM_001330069.1:c.1971T>A	NP_001316998.1:p.Phe657Leu
NM_001330069.2:c.1971T>A	NP_001316998.1:p.Phe657Leu
NM_001348390.1:c.1683T>A	NP_001335319.1:p.Phe561Leu
NM_002742.2:c.1947T>A	NP_002733.2:p.Phe649Leu
ENST00000331968.9:c.1947T>A	ENSP00000333568.5:p.Phe649Leu
ENST00000415220.6:c.1971T>A	ENSP00000390535.2:p.Phe657Leu
ENST00000616995.4:c.1947T>A	ENSP00000482645.1:p.Phe649Leu
ENST00000616995.5:n.1718T>A
ENST00000651571.1:c.1759T>A	ENSP00000498919.1:n.1759T>A
ENST00000651616.1:c.1828T>A	ENSP00000498661.1:n.1828T>A
ENST00000691517.1:n.1231T>A
XM_005267859.1:c.1971T>A	XP_005267916.1:p.Phe657Leu
XM_011536964.1:c.1743T>A	XP_011535266.1:p.Phe581Leu
XM_011536965.1:c.1683T>A	XP_011535267.1:p.Phe561Leu
XM_011536965.2:c.1683T>A	XP_011535267.1:p.Phe561Leu
XM_017021462.1:c.1452T>A	XP_016876951.1:p.Phe484Leu
XR_943493.1:n.2086T>A
XR_943493.2:n.2264T>A