Canonical Allele Identifier: CA389334082

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095741T>A (hg19) ; chr14:g.29626535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626535T>A , CM000676.2:g.29626535T>A	GRCh38
NC_000014.8:g.30095741T>A , CM000676.1:g.30095741T>A	GRCh37
NC_000014.7:g.29165492T>A	NCBI36
NG_052879.1:g.306159A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1518A>T
ENST00000691517.1:n.1031A>T
ENST00000331968.11:c.1747A>T MANE Select	ENSP00000333568.6:p.Ile583Phe
ENST00000651571.1:c.1559A>T	ENSP00000498919.1:n.1559A>T
ENST00000651616.1:c.1628A>T	ENSP00000498661.1:n.1628A>T
ENST00000331968.9:c.1747A>T	ENSP00000333568.5:p.Ile583Phe
ENST00000415220.6:c.1771A>T	ENSP00000390535.2:p.Ile591Phe
ENST00000616995.4:c.1747A>T	ENSP00000482645.1:p.Ile583Phe
NM_002742.2:c.1747A>T	NP_002733.2:p.Ile583Phe
XM_005267859.1:c.1771A>T	XP_005267916.1:p.Ile591Phe
XM_011536964.1:c.1543A>T	XP_011535266.1:p.Ile515Phe
XM_011536965.1:c.1483A>T	XP_011535267.1:p.Ile495Phe
XR_943493.1:n.1886A>T
NM_001330069.1:c.1771A>T	NP_001316998.1:p.Ile591Phe
NM_001348390.1:c.1483A>T	NP_001335319.1:p.Ile495Phe
XM_011536965.2:c.1483A>T	XP_011535267.1:p.Ile495Phe
XM_017021462.1:c.1252A>T	XP_016876951.1:p.Ile418Phe
XR_943493.2:n.2064A>T
NM_001330069.2:c.1771A>T	NP_001316998.1:p.Ile591Phe
NM_002742.3:c.1747A>T MANE Select	NP_002733.2:p.Ile583Phe