Canonical Allele Identifier: CA389336057

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29634522T>A , CM000676.2:g.29634522T>A	GRCh38
NC_000014.8:g.30103728T>A , CM000676.1:g.30103728T>A	GRCh37
NC_000014.7:g.29173479T>A	NCBI36
NG_052879.1:g.298172A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.1210A>T MANE Select	NP_002733.2:p.Ile404Phe
ENST00000331968.11:c.1210A>T MANE Select	ENSP00000333568.6:p.Ile404Phe
NM_001330069.1:c.1234A>T	NP_001316998.1:p.Ile412Phe
NM_001330069.2:c.1234A>T	NP_001316998.1:p.Ile412Phe
NM_001348390.1:c.946A>T	NP_001335319.1:p.Ile316Phe
NM_002742.2:c.1210A>T	NP_002733.2:p.Ile404Phe
ENST00000331968.9:c.1210A>T	ENSP00000333568.5:p.Ile404Phe
ENST00000415220.6:c.1234A>T	ENSP00000390535.2:p.Ile412Phe
ENST00000616995.4:c.1210A>T	ENSP00000482645.1:p.Ile404Phe
ENST00000616995.5:n.981A>T
ENST00000651571.1:c.1022A>T	ENSP00000498919.1:n.1022A>T
ENST00000651616.1:c.1091A>T	ENSP00000498661.1:n.1091A>T
ENST00000691517.1:n.494A>T
XM_005267859.1:c.1234A>T	XP_005267916.1:p.Ile412Phe
XM_011536964.1:c.1006A>T	XP_011535266.1:p.Ile336Phe
XM_011536965.1:c.946A>T	XP_011535267.1:p.Ile316Phe
XM_011536965.2:c.946A>T	XP_011535267.1:p.Ile316Phe
XM_017021462.1:c.715A>T	XP_016876951.1:p.Ile239Phe
XR_943493.1:n.1349A>T
XR_943493.2:n.1527A>T