Canonical Allele Identifier: CA389333952

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095710T>G (hg19) ; chr14:g.29626504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626504T>G , CM000676.2:g.29626504T>G	GRCh38
NC_000014.8:g.30095710T>G , CM000676.1:g.30095710T>G	GRCh37
NC_000014.7:g.29165461T>G	NCBI36
NG_052879.1:g.306190A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1549A>C
ENST00000691517.1:n.1062A>C
ENST00000331968.11:c.1778A>C MANE Select	ENSP00000333568.6:p.Gln593Pro
ENST00000651571.1:c.1590A>C	ENSP00000498919.1:n.1590A>C
ENST00000651616.1:c.1659A>C	ENSP00000498661.1:n.1659A>C
ENST00000331968.9:c.1778A>C	ENSP00000333568.5:p.Gln593Pro
ENST00000415220.6:c.1802A>C	ENSP00000390535.2:p.Gln601Pro
ENST00000616995.4:c.1778A>C	ENSP00000482645.1:p.Gln593Pro
NM_002742.2:c.1778A>C	NP_002733.2:p.Gln593Pro
XM_005267859.1:c.1802A>C	XP_005267916.1:p.Gln601Pro
XM_011536964.1:c.1574A>C	XP_011535266.1:p.Gln525Pro
XM_011536965.1:c.1514A>C	XP_011535267.1:p.Gln505Pro
XR_943493.1:n.1917A>C
NM_001330069.1:c.1802A>C	NP_001316998.1:p.Gln601Pro
NM_001348390.1:c.1514A>C	NP_001335319.1:p.Gln505Pro
XM_011536965.2:c.1514A>C	XP_011535267.1:p.Gln505Pro
XM_017021462.1:c.1283A>C	XP_016876951.1:p.Gln428Pro
XR_943493.2:n.2095A>C
NM_001330069.2:c.1802A>C	NP_001316998.1:p.Gln601Pro
NM_002742.3:c.1778A>C MANE Select	NP_002733.2:p.Gln593Pro