Canonical Allele Identifier: CA389477462

Gene: PRKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29666116T>C , CM000676.2:g.29666116T>C	GRCh38
NC_000014.8:g.30135322T>C , CM000676.1:g.30135322T>C	GRCh37
NC_000014.7:g.29205073T>C	NCBI36
NG_052879.1:g.266578A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002742.3:c.496A>G MANE Select	NP_002733.2:p.Met166Val
ENST00000331968.11:c.496A>G MANE Select	ENSP00000333568.6:p.Met166Val
NM_001330069.1:c.496A>G	NP_001316998.1:p.Met166Val
NM_001330069.2:c.496A>G	NP_001316998.1:p.Met166Val
NM_001348390.1:c.208A>G	NP_001335319.1:p.Met70Val
NM_002742.2:c.496A>G	NP_002733.2:p.Met166Val
ENST00000331968.9:c.496A>G	ENSP00000333568.5:p.Met166Val
ENST00000415220.6:c.496A>G	ENSP00000390535.2:p.Met166Val
ENST00000468370.5:n.43A>G
ENST00000549503.1:c.265A>G	ENSP00000446866.1:p.Met89Val
ENST00000616995.4:c.496A>G	ENSP00000482645.1:p.Met166Val
ENST00000616995.5:n.267A>G
ENST00000651571.1:c.308A>G	ENSP00000498919.1:n.308A>G
ENST00000651616.1:c.232A>G	ENSP00000498661.1:p.Met78Val
XM_005267859.1:c.496A>G	XP_005267916.1:p.Met166Val
XM_011536964.1:c.268A>G	XP_011535266.1:p.Met90Val
XM_011536965.1:c.208A>G	XP_011535267.1:p.Met70Val
XM_011536965.2:c.208A>G	XP_011535267.1:p.Met70Val
XM_017021462.1:c.1A>G	XP_016876951.1:p.Met1Val
XR_943493.1:n.611A>G
XR_943493.2:n.789A>G