Canonical Allele Identifier: CA9213277

Gene: PRKCSH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11448965C>T , CM000681.2:g.11448965C>T	GRCh38
NC_000019.9:g.11559780C>T , CM000681.1:g.11559780C>T	GRCh37
NC_000019.8:g.11420780C>T	NCBI36
NG_009300.1:g.18512C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001289104.2:c.1338C>T MANE Select	NP_001276033.1:p.Leu446=
ENST00000677123.1:c.1338C>T MANE Select	ENSP00000503163.1:p.Leu446=
NM_001001329.2:c.1308C>T	NP_001001329.1:p.Leu436=
NM_001001329.3:c.1308C>T	NP_001001329.1:p.Leu436=
NM_001289102.1:c.1308C>T	NP_001276031.1:p.Leu436=
NM_001289102.2:c.1308C>T	NP_001276031.1:p.Leu436=
NM_001289103.1:c.1338C>T	NP_001276032.1:p.Leu446=
NM_001289103.2:c.1338C>T	NP_001276032.1:p.Leu446=
NM_001289104.1:c.1338C>T	NP_001276033.1:p.Leu446=
NM_001379608.1:c.1317C>T	NP_001366537.1:p.Leu439=
NM_001379609.1:c.1308C>T	NP_001366538.1:p.Leu436=
NM_002743.3:c.1317C>T	NP_002734.2:p.Leu439=
ENST00000586486.1:c.333C>T	ENSP00000465948.1:p.Leu111=
ENST00000587290.5:n.500C>T
ENST00000587327.5:c.1308C>T	ENSP00000466012.1:p.Leu436=
ENST00000589838.5:c.1317C>T	ENSP00000465461.1:p.Leu439=
ENST00000590098.1:n.684C>T
ENST00000591462.5:c.1308C>T	ENSP00000465489.1:p.Leu436=
ENST00000591462.6:c.1308C>T	ENSP00000465489.1:p.Leu436=
ENST00000592435.1:n.145C>T
ENST00000592741.5:c.1338C>T	ENSP00000466134.1:p.Leu446=
XM_011528130.1:c.1338C>T	XP_011526432.1:p.Leu446=
XM_011528131.1:c.1317C>T	XP_011526433.1:p.Leu439=
XM_011528132.1:c.1308C>T	XP_011526434.1:p.Leu436=
XM_017026977.2:c.1317C>T	XP_016882466.1:p.Leu439=
XM_024451602.1:c.1308C>T	XP_024307370.1:p.Leu436=