Canonical Allele Identifier: CA389333526

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29624150A>T , CM000676.2:g.29624150A>T	GRCh38
NC_000014.8:g.30093356A>T , CM000676.1:g.30093356A>T	GRCh37
NC_000014.7:g.29163107A>T	NCBI36
NG_052879.1:g.308544T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.1905+2T>A MANE Select	NP_002733.2:n.1905+2T>A
ENST00000331968.11:c.1905+2T>A MANE Select	ENSP00000333568.6:n.1905+2T>A
NM_001330069.1:c.1929+2T>A	NP_001316998.1:n.1929+2T>A
NM_001330069.2:c.1929+2T>A	NP_001316998.1:n.1929+2T>A
NM_001348390.1:c.1641+2T>A	NP_001335319.1:n.1641+2T>A
NM_002742.2:c.1905+2T>A	NP_002733.2:n.1905+2T>A
ENST00000331968.9:c.1905+2T>A	ENSP00000333568.5:n.1905+2T>A
ENST00000415220.6:c.1929+2T>A	ENSP00000390535.2:n.1929+2T>A
ENST00000616995.4:c.1905+2T>A	ENSP00000482645.1:n.1905+2T>A
ENST00000616995.5:n.1676+2T>A
ENST00000651571.1:c.1717+2T>A	ENSP00000498919.1:n.1717+2T>A
ENST00000651616.1:c.1786+2T>A	ENSP00000498661.1:n.1786+2T>A
ENST00000691517.1:n.1189+2T>A
XM_005267859.1:c.1929+2T>A	XP_005267916.1:n.1929+2T>A
XM_011536964.1:c.1701+2T>A	XP_011535266.1:n.1701+2T>A
XM_011536965.1:c.1641+2T>A	XP_011535267.1:n.1641+2T>A
XM_011536965.2:c.1641+2T>A	XP_011535267.1:n.1641+2T>A
XM_017021462.1:c.1410+2T>A	XP_016876951.1:n.1410+2T>A
XR_943493.1:n.2044+2T>A
XR_943493.2:n.2222+2T>A