Canonical Allele Identifier: CA377648437

Gene: PLCE1 NOC3L

Linked Data

• gnomAD v4: 10-94322007-G-C
• MyVariant Identifiers: chr10:g.96081764G>C (hg19) ; chr10:g.94322007G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.5525G>C (PLCE1)	ENSP00000360426.1:p.Arg1842Pro
ENST00000685132.1:n.3848G>C (PLCE1)
ENST00000685253.1:c.*2992G>C (PLCE1)	ENSP00000509405.1:n.*2992G>C
ENST00000685889.1:n.3184G>C (PLCE1)
ENST00000686807.1:n.1868G>C (PLCE1)
ENST00000686954.1:c.*1733G>C (PLCE1)	ENSP00000508416.1:n.*1733G>C
ENST00000688810.1:c.5477G>C (PLCE1)	ENSP00000509140.1:p.Arg1826Pro
ENST00000689233.1:n.10657G>C (PLCE1)
ENST00000690340.1:n.4122G>C (PLCE1)
ENST00000692286.1:c.6317G>C (PLCE1)	ENSP00000509490.1:p.Arg2106Pro
ENST00000692396.1:c.6401G>C (PLCE1)	ENSP00000508605.1:p.Arg2134Pro
ENST00000371380.8:c.6449G>C (PLCE1) MANE Select	ENSP00000360431.2:p.Arg2150Pro
ENST00000371385.8:c.5423G>C (PLCE1)	ENSP00000360438.4:p.Arg1808Pro
ENST00000674738.1:c.5004G>C (PLCE1)
ENST00000674827.1:c.4565G>C (PLCE1)	ENSP00000502523.1:p.Arg1522Pro
ENST00000675218.1:c.5525G>C (PLCE1)	ENSP00000501910.1:p.Arg1842Pro
ENST00000675487.1:c.*2382G>C (PLCE1)	ENSP00000502340.1:n.*2382G>C
ENST00000675718.1:c.5718G>C (PLCE1)
ENST00000260766.7:c.6449G>C (PLCE1)	ENSP00000260766.3:p.Arg2150Pro
ENST00000371375.1:c.5525G>C (PLCE1)	ENSP00000360426.1:p.Arg1842Pro
ENST00000371380.7:c.6449G>C (PLCE1)	ENSP00000360431.2:p.Arg2150Pro
ENST00000371385.7:c.5525G>C (PLCE1)	ENSP00000360438.3:p.Arg1842Pro
NM_001165979.2:c.5525G>C (PLCE1)	NP_001159451.1:p.Arg1842Pro
NM_001288989.1:c.6401G>C (PLCE1)	NP_001275918.1:p.Arg2134Pro
NM_016341.3:c.6449G>C (PLCE1)	NP_057425.3:p.Arg2150Pro
XM_006717885.2:c.6491G>C (PLCE1)	XP_006717948.1:p.Arg2164Pro
XM_006717886.2:c.6491G>C (PLCE1)	XP_006717949.1:p.Arg2164Pro
XM_006717888.2:c.6488G>C (PLCE1)	XP_006717951.1:p.Arg2163Pro
XM_006717889.2:c.6443G>C (PLCE1)	XP_006717952.1:p.Arg2148Pro
XM_006717890.1:c.5567G>C (PLCE1)	XP_006717953.1:p.Arg1856Pro
XM_011539849.1:c.6491G>C (PLCE1)	XP_011538151.1:p.Arg2164Pro
XM_011539850.1:c.5336G>C (PLCE1)	XP_011538152.1:p.Arg1779Pro
XR_945799.1:n.3311-6543C>G (NOC3L)
XM_006717885.4:c.6491G>C (PLCE1)	XP_006717948.1:p.Arg2164Pro
XM_006717888.4:c.6488G>C (PLCE1)	XP_006717951.1:p.Arg2163Pro
XM_006717889.4:c.6443G>C (PLCE1)	XP_006717952.1:p.Arg2148Pro
XM_006717890.3:c.5567G>C (PLCE1)	XP_006717953.1:p.Arg1856Pro
XM_011539849.3:c.6491G>C (PLCE1)	XP_011538151.1:p.Arg2164Pro
XM_011539850.3:c.5336G>C (PLCE1)	XP_011538152.1:p.Arg1779Pro
XM_017016310.2:c.6491G>C (PLCE1)	XP_016871799.1:p.Arg2164Pro
XM_017016311.2:c.6491G>C (PLCE1)	XP_016871800.1:p.Arg2164Pro
XM_017016312.2:c.5477G>C (PLCE1)	XP_016871801.1:p.Arg1826Pro
XR_002957007.1:n.3312-6543C>G (NOC3L)
NM_001288989.2:c.6401G>C (PLCE1)	NP_001275918.1:p.Arg2134Pro
NM_016341.4:c.6449G>C (PLCE1) MANE Select	NP_057425.3:p.Arg2150Pro