Canonical Allele Identifier: CA377648577

Gene: PLCE1 NOC3L

Linked Data

• gnomAD v4: 10-94322037-C-T
• MyVariant Identifiers: chr10:g.96081794C>T (hg19) ; chr10:g.94322037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94322037C>T , CM000672.2:g.94322037C>T	GRCh38
NC_000010.10:g.96081794C>T , CM000672.1:g.96081794C>T	GRCh37
NC_000010.9:g.96071784C>T	NCBI36
NG_015799.1:g.333049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.5555C>T (PLCE1)	ENSP00000360426.1:p.Thr1852Ile
ENST00000685253.1:c.*3022C>T (PLCE1)	ENSP00000509405.1:n.*3022C>T
ENST00000685889.1:n.3214C>T (PLCE1)
ENST00000686807.1:n.1898C>T (PLCE1)
ENST00000686954.1:c.*1763C>T (PLCE1)	ENSP00000508416.1:n.*1763C>T
ENST00000688810.1:c.5507C>T (PLCE1)	ENSP00000509140.1:p.Thr1836Ile
ENST00000689233.1:n.10687C>T (PLCE1)
ENST00000690340.1:n.4152C>T (PLCE1)
ENST00000692286.1:c.6347C>T (PLCE1)	ENSP00000509490.1:p.Thr2116Ile
ENST00000692396.1:c.6431C>T (PLCE1)	ENSP00000508605.1:p.Thr2144Ile
ENST00000371380.8:c.6479C>T (PLCE1) MANE Select	ENSP00000360431.2:p.Thr2160Ile
ENST00000371385.8:c.5453C>T (PLCE1)	ENSP00000360438.4:p.Thr1818Ile
ENST00000675218.1:c.5555C>T (PLCE1)	ENSP00000501910.1:p.Thr1852Ile
ENST00000675487.1:c.*2412C>T (PLCE1)	ENSP00000502340.1:n.*2412C>T
ENST00000260766.7:c.6479C>T (PLCE1)	ENSP00000260766.3:p.Thr2160Ile
ENST00000371375.1:c.5555C>T (PLCE1)	ENSP00000360426.1:p.Thr1852Ile
ENST00000371380.7:c.6479C>T (PLCE1)	ENSP00000360431.2:p.Thr2160Ile
ENST00000371385.7:c.5555C>T (PLCE1)	ENSP00000360438.3:p.Thr1852Ile
NM_001165979.2:c.5555C>T (PLCE1)	NP_001159451.1:p.Thr1852Ile
NM_001288989.1:c.6431C>T (PLCE1)	NP_001275918.1:p.Thr2144Ile
NM_016341.3:c.6479C>T (PLCE1)	NP_057425.3:p.Thr2160Ile
XM_006717885.2:c.6521C>T (PLCE1)	XP_006717948.1:p.Thr2174Ile
XM_006717886.2:c.6521C>T (PLCE1)	XP_006717949.1:p.Thr2174Ile
XM_006717888.2:c.6518C>T (PLCE1)	XP_006717951.1:p.Thr2173Ile
XM_006717889.2:c.6473C>T (PLCE1)	XP_006717952.1:p.Thr2158Ile
XM_006717890.1:c.5597C>T (PLCE1)	XP_006717953.1:p.Thr1866Ile
XM_011539849.1:c.6521C>T (PLCE1)	XP_011538151.1:p.Thr2174Ile
XM_011539850.1:c.5366C>T (PLCE1)	XP_011538152.1:p.Thr1789Ile
XR_945799.1:n.3311-6573G>A (NOC3L)
XM_006717885.4:c.6521C>T (PLCE1)	XP_006717948.1:p.Thr2174Ile
XM_006717888.4:c.6518C>T (PLCE1)	XP_006717951.1:p.Thr2173Ile
XM_006717889.4:c.6473C>T (PLCE1)	XP_006717952.1:p.Thr2158Ile
XM_006717890.3:c.5597C>T (PLCE1)	XP_006717953.1:p.Thr1866Ile
XM_011539849.3:c.6521C>T (PLCE1)	XP_011538151.1:p.Thr2174Ile
XM_011539850.3:c.5366C>T (PLCE1)	XP_011538152.1:p.Thr1789Ile
XM_017016310.2:c.6521C>T (PLCE1)	XP_016871799.1:p.Thr2174Ile
XM_017016311.2:c.6521C>T (PLCE1)	XP_016871800.1:p.Thr2174Ile
XM_017016312.2:c.5507C>T (PLCE1)	XP_016871801.1:p.Thr1836Ile
XR_002957007.1:n.3312-6573G>A (NOC3L)
NM_001288989.2:c.6431C>T (PLCE1)	NP_001275918.1:p.Thr2144Ile
NM_016341.4:c.6479C>T (PLCE1) MANE Select	NP_057425.3:p.Thr2160Ile