Canonical Allele Identifier: CA389333978

Gene: PRKD1

Linked Data

• MyVariant Identifiers: chr14:g.30095717A>C (hg19) ; chr14:g.29626511A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626511A>C , CM000676.2:g.29626511A>C	GRCh38
NC_000014.8:g.30095717A>C , CM000676.1:g.30095717A>C	GRCh37
NC_000014.7:g.29165468A>C	NCBI36
NG_052879.1:g.306183T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1542T>G
ENST00000691517.1:n.1055T>G
ENST00000331968.11:c.1771T>G MANE Select	ENSP00000333568.6:p.Ser591Ala
ENST00000651571.1:c.1583T>G	ENSP00000498919.1:n.1583T>G
ENST00000651616.1:c.1652T>G	ENSP00000498661.1:n.1652T>G
ENST00000331968.9:c.1771T>G	ENSP00000333568.5:p.Ser591Ala
ENST00000415220.6:c.1795T>G	ENSP00000390535.2:p.Ser599Ala
ENST00000616995.4:c.1771T>G	ENSP00000482645.1:p.Ser591Ala
NM_002742.2:c.1771T>G	NP_002733.2:p.Ser591Ala
XM_005267859.1:c.1795T>G	XP_005267916.1:p.Ser599Ala
XM_011536964.1:c.1567T>G	XP_011535266.1:p.Ser523Ala
XM_011536965.1:c.1507T>G	XP_011535267.1:p.Ser503Ala
XR_943493.1:n.1910T>G
NM_001330069.1:c.1795T>G	NP_001316998.1:p.Ser599Ala
NM_001348390.1:c.1507T>G	NP_001335319.1:p.Ser503Ala
XM_011536965.2:c.1507T>G	XP_011535267.1:p.Ser503Ala
XM_017021462.1:c.1276T>G	XP_016876951.1:p.Ser426Ala
XR_943493.2:n.2088T>G
NM_001330069.2:c.1795T>G	NP_001316998.1:p.Ser599Ala
NM_002742.3:c.1771T>G MANE Select	NP_002733.2:p.Ser591Ala