Canonical Allele Identifier: CA377648439

Gene: PLCE1 NOC3L

Linked Data

• dbSNP Id: rs769631306
• gnomAD v2: 10-96081764-G-A
• gnomAD v4: 10-94322007-G-A
• COSMIC: COSM921686 ; COSM1585180 ; COSM1585181
• MyVariant Identifiers: chr10:g.96081764G>A (hg19) ; chr10:g.94322007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94322007G>A , CM000672.2:g.94322007G>A	GRCh38
NC_000010.10:g.96081764G>A , CM000672.1:g.96081764G>A	GRCh37
NC_000010.9:g.96071754G>A	NCBI36
NG_015799.1:g.333019G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.5525G>A (PLCE1)	ENSP00000360426.1:p.Arg1842Gln
ENST00000685132.1:n.3848G>A (PLCE1)
ENST00000685253.1:c.*2992G>A (PLCE1)	ENSP00000509405.1:n.*2992G>A
ENST00000685889.1:n.3184G>A (PLCE1)
ENST00000686807.1:n.1868G>A (PLCE1)
ENST00000686954.1:c.*1733G>A (PLCE1)	ENSP00000508416.1:n.*1733G>A
ENST00000688810.1:c.5477G>A (PLCE1)	ENSP00000509140.1:p.Arg1826Gln
ENST00000689233.1:n.10657G>A (PLCE1)
ENST00000690340.1:n.4122G>A (PLCE1)
ENST00000692286.1:c.6317G>A (PLCE1)	ENSP00000509490.1:p.Arg2106Gln
ENST00000692396.1:c.6401G>A (PLCE1)	ENSP00000508605.1:p.Arg2134Gln
ENST00000371380.8:c.6449G>A (PLCE1) MANE Select	ENSP00000360431.2:p.Arg2150Gln
ENST00000371385.8:c.5423G>A (PLCE1)	ENSP00000360438.4:p.Arg1808Gln
ENST00000674738.1:c.5004G>A (PLCE1)
ENST00000674827.1:c.4565G>A (PLCE1)	ENSP00000502523.1:p.Arg1522Gln
ENST00000675218.1:c.5525G>A (PLCE1)	ENSP00000501910.1:p.Arg1842Gln
ENST00000675487.1:c.*2382G>A (PLCE1)	ENSP00000502340.1:n.*2382G>A
ENST00000675718.1:c.5718G>A (PLCE1)
ENST00000260766.7:c.6449G>A (PLCE1)	ENSP00000260766.3:p.Arg2150Gln
ENST00000371375.1:c.5525G>A (PLCE1)	ENSP00000360426.1:p.Arg1842Gln
ENST00000371380.7:c.6449G>A (PLCE1)	ENSP00000360431.2:p.Arg2150Gln
ENST00000371385.7:c.5525G>A (PLCE1)	ENSP00000360438.3:p.Arg1842Gln
NM_001165979.2:c.5525G>A (PLCE1)	NP_001159451.1:p.Arg1842Gln
NM_001288989.1:c.6401G>A (PLCE1)	NP_001275918.1:p.Arg2134Gln
NM_016341.3:c.6449G>A (PLCE1)	NP_057425.3:p.Arg2150Gln
XM_006717885.2:c.6491G>A (PLCE1)	XP_006717948.1:p.Arg2164Gln
XM_006717886.2:c.6491G>A (PLCE1)	XP_006717949.1:p.Arg2164Gln
XM_006717888.2:c.6488G>A (PLCE1)	XP_006717951.1:p.Arg2163Gln
XM_006717889.2:c.6443G>A (PLCE1)	XP_006717952.1:p.Arg2148Gln
XM_006717890.1:c.5567G>A (PLCE1)	XP_006717953.1:p.Arg1856Gln
XM_011539849.1:c.6491G>A (PLCE1)	XP_011538151.1:p.Arg2164Gln
XM_011539850.1:c.5336G>A (PLCE1)	XP_011538152.1:p.Arg1779Gln
XR_945799.1:n.3311-6543C>T (NOC3L)
XM_006717885.4:c.6491G>A (PLCE1)	XP_006717948.1:p.Arg2164Gln
XM_006717888.4:c.6488G>A (PLCE1)	XP_006717951.1:p.Arg2163Gln
XM_006717889.4:c.6443G>A (PLCE1)	XP_006717952.1:p.Arg2148Gln
XM_006717890.3:c.5567G>A (PLCE1)	XP_006717953.1:p.Arg1856Gln
XM_011539849.3:c.6491G>A (PLCE1)	XP_011538151.1:p.Arg2164Gln
XM_011539850.3:c.5336G>A (PLCE1)	XP_011538152.1:p.Arg1779Gln
XM_017016310.2:c.6491G>A (PLCE1)	XP_016871799.1:p.Arg2164Gln
XM_017016311.2:c.6491G>A (PLCE1)	XP_016871800.1:p.Arg2164Gln
XM_017016312.2:c.5477G>A (PLCE1)	XP_016871801.1:p.Arg1826Gln
XR_002957007.1:n.3312-6543C>T (NOC3L)
NM_001288989.2:c.6401G>A (PLCE1)	NP_001275918.1:p.Arg2134Gln
NM_016341.4:c.6449G>A (PLCE1) MANE Select	NP_057425.3:p.Arg2150Gln