Canonical Allele Identifier: CA389333946

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095709C>G (hg19) ; chr14:g.29626503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626503C>G , CM000676.2:g.29626503C>G	GRCh38
NC_000014.8:g.30095709C>G , CM000676.1:g.30095709C>G	GRCh37
NC_000014.7:g.29165460C>G	NCBI36
NG_052879.1:g.306191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1550G>C
ENST00000691517.1:n.1063G>C
ENST00000331968.11:c.1779G>C MANE Select	ENSP00000333568.6:p.Gln593His
ENST00000651571.1:c.1591G>C	ENSP00000498919.1:n.1591G>C
ENST00000651616.1:c.1660G>C	ENSP00000498661.1:n.1660G>C
ENST00000331968.9:c.1779G>C	ENSP00000333568.5:p.Gln593His
ENST00000415220.6:c.1803G>C	ENSP00000390535.2:p.Gln601His
ENST00000616995.4:c.1779G>C	ENSP00000482645.1:p.Gln593His
NM_002742.2:c.1779G>C	NP_002733.2:p.Gln593His
XM_005267859.1:c.1803G>C	XP_005267916.1:p.Gln601His
XM_011536964.1:c.1575G>C	XP_011535266.1:p.Gln525His
XM_011536965.1:c.1515G>C	XP_011535267.1:p.Gln505His
XR_943493.1:n.1918G>C
NM_001330069.1:c.1803G>C	NP_001316998.1:p.Gln601His
NM_001348390.1:c.1515G>C	NP_001335319.1:p.Gln505His
XM_011536965.2:c.1515G>C	XP_011535267.1:p.Gln505His
XM_017021462.1:c.1284G>C	XP_016876951.1:p.Gln428His
XR_943493.2:n.2096G>C
NM_001330069.2:c.1803G>C	NP_001316998.1:p.Gln601His
NM_002742.3:c.1779G>C MANE Select	NP_002733.2:p.Gln593His