Canonical Allele Identifier: CA257951018

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29624183C>A , CM000676.2:g.29624183C>A	GRCh38
NC_000014.8:g.30093389C>A , CM000676.1:g.30093389C>A	GRCh37
NC_000014.7:g.29163140C>A	NCBI36
NG_052879.1:g.308511G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.1874G>T MANE Select	NP_002733.2:p.Ser625Ile
ENST00000331968.11:c.1874G>T MANE Select	ENSP00000333568.6:p.Ser625Ile
NM_001330069.1:c.1898G>T	NP_001316998.1:p.Ser633Ile
NM_001330069.2:c.1898G>T	NP_001316998.1:p.Ser633Ile
NM_001348390.1:c.1610G>T	NP_001335319.1:p.Ser537Ile
NM_002742.2:c.1874G>T	NP_002733.2:p.Ser625Ile
ENST00000331968.9:c.1874G>T	ENSP00000333568.5:p.Ser625Ile
ENST00000415220.6:c.1898G>T	ENSP00000390535.2:p.Ser633Ile
ENST00000616995.4:c.1874G>T	ENSP00000482645.1:p.Ser625Ile
ENST00000616995.5:n.1645G>T
ENST00000651571.1:c.1686G>T	ENSP00000498919.1:n.1686G>T
ENST00000651616.1:c.1755G>T	ENSP00000498661.1:n.1755G>T
ENST00000691517.1:n.1158G>T
XM_005267859.1:c.1898G>T	XP_005267916.1:p.Ser633Ile
XM_011536964.1:c.1670G>T	XP_011535266.1:p.Ser557Ile
XM_011536965.1:c.1610G>T	XP_011535267.1:p.Ser537Ile
XM_011536965.2:c.1610G>T	XP_011535267.1:p.Ser537Ile
XM_017021462.1:c.1379G>T	XP_016876951.1:p.Ser460Ile
XR_943493.1:n.2013G>T
XR_943493.2:n.2191G>T