Canonical Allele Identifier: CA389332333
Gene: PRKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.29599708G>A , CM000676.2:g.29599708G>A GRCh38
NC_000014.8:g.30068914G>A , CM000676.1:g.30068914G>A GRCh37
NC_000014.7:g.29138665G>A NCBI36
NG_052879.1:g.332986C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000616995.5:n.1786C>T
ENST00000691517.1:n.1299C>T
ENST00000331968.11:c.2015C>T MANE Select ENSP00000333568.6:p.Ser672Leu
ENST00000651571.1:c.1827C>T ENSP00000498919.1:n.1827C>T
ENST00000651616.1:c.1896C>T ENSP00000498661.1:n.1896C>T
ENST00000331968.9:c.2015C>T ENSP00000333568.5:p.Ser672Leu
ENST00000415220.6:c.2039C>T ENSP00000390535.2:p.Ser680Leu
ENST00000616995.4:c.2015C>T ENSP00000482645.1:p.Ser672Leu
NM_002742.2:c.2015C>T NP_002733.2:p.Ser672Leu
XM_005267859.1:c.2039C>T XP_005267916.1:p.Ser680Leu
XM_011536964.1:c.1811C>T XP_011535266.1:p.Ser604Leu
XM_011536965.1:c.1751C>T XP_011535267.1:p.Ser584Leu
XR_943493.1:n.2154C>T
NM_001330069.1:c.2039C>T NP_001316998.1:p.Ser680Leu
NM_001348390.1:c.1751C>T NP_001335319.1:p.Ser584Leu
XM_011536965.2:c.1751C>T XP_011535267.1:p.Ser584Leu
XM_017021462.1:c.1520C>T XP_016876951.1:p.Ser507Leu
XR_943493.2:n.2332C>T
NM_001330069.2:c.2039C>T NP_001316998.1:p.Ser680Leu
NM_002742.3:c.2015C>T MANE Select NP_002733.2:p.Ser672Leu