Canonical Allele Identifier: CA389333904

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095700A>C (hg19) ; chr14:g.29626494A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626494A>C , CM000676.2:g.29626494A>C	GRCh38
NC_000014.8:g.30095700A>C , CM000676.1:g.30095700A>C	GRCh37
NC_000014.7:g.29165451A>C	NCBI36
NG_052879.1:g.306200T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1559T>G
ENST00000691517.1:n.1072T>G
ENST00000331968.11:c.1788T>G MANE Select	ENSP00000333568.6:p.Ile596Met
ENST00000651571.1:c.1600T>G	ENSP00000498919.1:n.1600T>G
ENST00000651616.1:c.1669T>G	ENSP00000498661.1:n.1669T>G
ENST00000331968.9:c.1788T>G	ENSP00000333568.5:p.Ile596Met
ENST00000415220.6:c.1812T>G	ENSP00000390535.2:p.Ile604Met
ENST00000616995.4:c.1788T>G	ENSP00000482645.1:p.Ile596Met
NM_002742.2:c.1788T>G	NP_002733.2:p.Ile596Met
XM_005267859.1:c.1812T>G	XP_005267916.1:p.Ile604Met
XM_011536964.1:c.1584T>G	XP_011535266.1:p.Ile528Met
XM_011536965.1:c.1524T>G	XP_011535267.1:p.Ile508Met
XR_943493.1:n.1927T>G
NM_001330069.1:c.1812T>G	NP_001316998.1:p.Ile604Met
NM_001348390.1:c.1524T>G	NP_001335319.1:p.Ile508Met
XM_011536965.2:c.1524T>G	XP_011535267.1:p.Ile508Met
XM_017021462.1:c.1293T>G	XP_016876951.1:p.Ile431Met
XR_943493.2:n.2105T>G
NM_001330069.2:c.1812T>G	NP_001316998.1:p.Ile604Met
NM_002742.3:c.1788T>G MANE Select	NP_002733.2:p.Ile596Met