Canonical Allele Identifier: CA485824953

Gene: PRKD1

Linked Data

• dbSNP Id: rs1283345458
• gnomAD v2: 14-30095718-A-G
• gnomAD v3: 14-29626512-A-G
• gnomAD v4: 14-29626512-A-G
• MyVariant Identifiers: chr14:g.30095718A>G (hg19) ; chr14:g.29626512A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626512A>G , CM000676.2:g.29626512A>G	GRCh38
NC_000014.8:g.30095718A>G , CM000676.1:g.30095718A>G	GRCh37
NC_000014.7:g.29165469A>G	NCBI36
NG_052879.1:g.306182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1541T>C
ENST00000691517.1:n.1054T>C
ENST00000331968.11:c.1770T>C MANE Select	ENSP00000333568.6:p.Gly590=
ENST00000651571.1:c.1582T>C	ENSP00000498919.1:n.1582T>C
ENST00000651616.1:c.1651T>C	ENSP00000498661.1:n.1651T>C
ENST00000331968.9:c.1770T>C	ENSP00000333568.5:p.Gly590=
ENST00000415220.6:c.1794T>C	ENSP00000390535.2:p.Gly598=
ENST00000616995.4:c.1770T>C	ENSP00000482645.1:p.Gly590=
NM_002742.2:c.1770T>C	NP_002733.2:p.Gly590=
XM_005267859.1:c.1794T>C	XP_005267916.1:p.Gly598=
XM_011536964.1:c.1566T>C	XP_011535266.1:p.Gly522=
XM_011536965.1:c.1506T>C	XP_011535267.1:p.Gly502=
XR_943493.1:n.1909T>C
NM_001330069.1:c.1794T>C	NP_001316998.1:p.Gly598=
NM_001348390.1:c.1506T>C	NP_001335319.1:p.Gly502=
XM_011536965.2:c.1506T>C	XP_011535267.1:p.Gly502=
XM_017021462.1:c.1275T>C	XP_016876951.1:p.Gly425=
XR_943493.2:n.2087T>C
NM_001330069.2:c.1794T>C	NP_001316998.1:p.Gly598=
NM_002742.3:c.1770T>C MANE Select	NP_002733.2:p.Gly590=