Canonical Allele Identifier: CA485824955

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095721C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626515C>G , CM000676.2:g.29626515C>G	GRCh38
NC_000014.8:g.30095721C>G , CM000676.1:g.30095721C>G	GRCh37
NC_000014.7:g.29165472C>G	NCBI36
NG_052879.1:g.306179G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000616995.5:n.1538G>C
ENST00000691517.1:n.1051G>C
ENST00000331968.11:c.1767G>C MANE Select	ENSP00000333568.6:p.Leu589=
ENST00000651571.1:c.1579G>C	ENSP00000498919.1:n.1579G>C
ENST00000651616.1:c.1648G>C	ENSP00000498661.1:n.1648G>C
ENST00000331968.9:c.1767G>C	ENSP00000333568.5:p.Leu589=
ENST00000415220.6:c.1791G>C	ENSP00000390535.2:p.Leu597=
ENST00000616995.4:c.1767G>C	ENSP00000482645.1:p.Leu589=
NM_002742.2:c.1767G>C	NP_002733.2:p.Leu589=
XM_005267859.1:c.1791G>C	XP_005267916.1:p.Leu597=
XM_011536964.1:c.1563G>C	XP_011535266.1:p.Leu521=
XM_011536965.1:c.1503G>C	XP_011535267.1:p.Leu501=
XR_943493.1:n.1906G>C
NM_001330069.1:c.1791G>C	NP_001316998.1:p.Leu597=
NM_001348390.1:c.1503G>C	NP_001335319.1:p.Leu501=
XM_011536965.2:c.1503G>C	XP_011535267.1:p.Leu501=
XM_017021462.1:c.1272G>C	XP_016876951.1:p.Leu424=
XR_943493.2:n.2084G>C
NM_001330069.2:c.1791G>C	NP_001316998.1:p.Leu597=
NM_002742.3:c.1767G>C MANE Select	NP_002733.2:p.Leu589=