Canonical Allele Identifier: CA389331218

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29578297G>T , CM000676.2:g.29578297G>T	GRCh38
NC_000014.8:g.30047503G>T , CM000676.1:g.30047503G>T	GRCh37
NC_000014.7:g.29117254G>T	NCBI36
NG_052879.1:g.354397C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.2498C>A MANE Select	NP_002733.2:p.Thr833Asn
ENST00000331968.11:c.2498C>A MANE Select	ENSP00000333568.6:p.Thr833Asn
NM_001330069.1:c.2522C>A	NP_001316998.1:p.Thr841Asn
NM_001330069.2:c.2522C>A	NP_001316998.1:p.Thr841Asn
NM_001348390.1:c.2234C>A	NP_001335319.1:p.Thr745Asn
NM_002742.2:c.2498C>A	NP_002733.2:p.Thr833Asn
ENST00000331968.9:c.2498C>A	ENSP00000333568.5:p.Thr833Asn
ENST00000415220.6:c.2522C>A	ENSP00000390535.2:p.Thr841Asn
ENST00000616995.4:c.2498C>A	ENSP00000482645.1:p.Thr833Asn
ENST00000616995.5:n.2269C>A
ENST00000651571.1:c.2310C>A	ENSP00000498919.1:n.2310C>A
ENST00000651616.1:c.2379C>A	ENSP00000498661.1:n.2379C>A
ENST00000691338.1:n.153C>A
ENST00000691517.1:n.1782C>A
XM_005267859.1:c.2522C>A	XP_005267916.1:p.Thr841Asn
XM_011536964.1:c.2294C>A	XP_011535266.1:p.Thr765Asn
XM_011536965.1:c.2234C>A	XP_011535267.1:p.Thr745Asn
XM_011536965.2:c.2234C>A	XP_011535267.1:p.Thr745Asn
XM_017021462.1:c.2003C>A	XP_016876951.1:p.Thr668Asn
XR_943493.1:n.2763C>A
XR_943493.2:n.2941C>A