Canonical Allele Identifier: CA404137785

Gene: PRKCSH

Linked Data

• MyVariant Identifiers: chr19:g.11560161G>A (hg19) ; chr19:g.11449346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11449346G>A , CM000681.2:g.11449346G>A	GRCh38
NC_000019.9:g.11560161G>A , CM000681.1:g.11560161G>A	GRCh37
NC_000019.8:g.11421161G>A	NCBI36
NG_009300.1:g.18893G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000591462.6:c.1512G>A	ENSP00000465489.1:p.Met504Ile
ENST00000677123.1:c.1542G>A MANE Select	ENSP00000503163.1:p.Met514Ile
ENST00000586486.1:c.537G>A	ENSP00000465948.1:p.Met179Ile
ENST00000587290.5:n.704G>A
ENST00000587327.5:c.1512G>A	ENSP00000466012.1:p.Met504Ile
ENST00000589838.5:c.1521G>A	ENSP00000465461.1:p.Met507Ile
ENST00000591462.5:c.1512G>A	ENSP00000465489.1:p.Met504Ile
ENST00000592741.5:c.1542G>A	ENSP00000466134.1:p.Met514Ile
NM_001001329.2:c.1512G>A	NP_001001329.1:p.Met504Ile
NM_001289102.1:c.1512G>A	NP_001276031.1:p.Met504Ile
NM_001289103.1:c.1542G>A	NP_001276032.1:p.Met514Ile
NM_001289104.1:c.1542G>A	NP_001276033.1:p.Met514Ile
NM_002743.3:c.1521G>A	NP_002734.2:p.Met507Ile
XM_011528130.1:c.1542G>A	XP_011526432.1:p.Met514Ile
XM_011528131.1:c.1521G>A	XP_011526433.1:p.Met507Ile
XM_011528132.1:c.1512G>A	XP_011526434.1:p.Met504Ile
XM_017026977.2:c.1521G>A	XP_016882466.1:p.Met507Ile
XM_024451602.1:c.1512G>A	XP_024307370.1:p.Met504Ile
NM_001001329.3:c.1512G>A	NP_001001329.1:p.Met504Ile
NM_001289102.2:c.1512G>A	NP_001276031.1:p.Met504Ile
NM_001289103.2:c.1542G>A	NP_001276032.1:p.Met514Ile
NM_001289104.2:c.1542G>A MANE Select	NP_001276033.1:p.Met514Ile
NM_001379608.1:c.1521G>A	NP_001366537.1:p.Met507Ile
NM_001379609.1:c.1512G>A	NP_001366538.1:p.Met504Ile