Canonical Allele Identifier: CA257951480

Gene: PRKD1

Linked Data

• dbSNP Id: rs201249852
• gnomAD v4: 14-29626525-T-C
• MyVariant Identifiers: chr14:g.30095731T>C (hg19) ; chr14:g.29626525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626525T>C , CM000676.2:g.29626525T>C	GRCh38
NC_000014.8:g.30095731T>C , CM000676.1:g.30095731T>C	GRCh37
NC_000014.7:g.29165482T>C	NCBI36
NG_052879.1:g.306169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1528A>G
ENST00000691517.1:n.1041A>G
ENST00000331968.11:c.1757A>G MANE Select	ENSP00000333568.6:p.Asp586Gly
ENST00000651571.1:c.1569A>G	ENSP00000498919.1:n.1569A>G
ENST00000651616.1:c.1638A>G	ENSP00000498661.1:n.1638A>G
ENST00000331968.9:c.1757A>G	ENSP00000333568.5:p.Asp586Gly
ENST00000415220.6:c.1781A>G	ENSP00000390535.2:p.Asp594Gly
ENST00000616995.4:c.1757A>G	ENSP00000482645.1:p.Asp586Gly
NM_002742.2:c.1757A>G	NP_002733.2:p.Asp586Gly
XM_005267859.1:c.1781A>G	XP_005267916.1:p.Asp594Gly
XM_011536964.1:c.1553A>G	XP_011535266.1:p.Asp518Gly
XM_011536965.1:c.1493A>G	XP_011535267.1:p.Asp498Gly
XR_943493.1:n.1896A>G
NM_001330069.1:c.1781A>G	NP_001316998.1:p.Asp594Gly
NM_001348390.1:c.1493A>G	NP_001335319.1:p.Asp498Gly
XM_011536965.2:c.1493A>G	XP_011535267.1:p.Asp498Gly
XM_017021462.1:c.1262A>G	XP_016876951.1:p.Asp421Gly
XR_943493.2:n.2074A>G
NM_001330069.2:c.1781A>G	NP_001316998.1:p.Asp594Gly
NM_002742.3:c.1757A>G MANE Select	NP_002733.2:p.Asp586Gly