Canonical Allele Identifier: CA389333912

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095702T>A (hg19) ; chr14:g.29626496T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626496T>A , CM000676.2:g.29626496T>A	GRCh38
NC_000014.8:g.30095702T>A , CM000676.1:g.30095702T>A	GRCh37
NC_000014.7:g.29165453T>A	NCBI36
NG_052879.1:g.306198A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1557A>T
ENST00000691517.1:n.1070A>T
ENST00000331968.11:c.1786A>T MANE Select	ENSP00000333568.6:p.Ile596Phe
ENST00000651571.1:c.1598A>T	ENSP00000498919.1:n.1598A>T
ENST00000651616.1:c.1667A>T	ENSP00000498661.1:n.1667A>T
ENST00000331968.9:c.1786A>T	ENSP00000333568.5:p.Ile596Phe
ENST00000415220.6:c.1810A>T	ENSP00000390535.2:p.Ile604Phe
ENST00000616995.4:c.1786A>T	ENSP00000482645.1:p.Ile596Phe
NM_002742.2:c.1786A>T	NP_002733.2:p.Ile596Phe
XM_005267859.1:c.1810A>T	XP_005267916.1:p.Ile604Phe
XM_011536964.1:c.1582A>T	XP_011535266.1:p.Ile528Phe
XM_011536965.1:c.1522A>T	XP_011535267.1:p.Ile508Phe
XR_943493.1:n.1925A>T
NM_001330069.1:c.1810A>T	NP_001316998.1:p.Ile604Phe
NM_001348390.1:c.1522A>T	NP_001335319.1:p.Ile508Phe
XM_011536965.2:c.1522A>T	XP_011535267.1:p.Ile508Phe
XM_017021462.1:c.1291A>T	XP_016876951.1:p.Ile431Phe
XR_943493.2:n.2103A>T
NM_001330069.2:c.1810A>T	NP_001316998.1:p.Ile604Phe
NM_002742.3:c.1786A>T MANE Select	NP_002733.2:p.Ile596Phe