Canonical Allele Identifier: CA470812244

Gene: PLCE1 NOC3L

Linked Data

• dbSNP Id: rs1177787500
• gnomAD v2: 10-96081666-A-G
• gnomAD v3: 10-94321909-A-G
• gnomAD v4: 10-94321909-A-G
• MyVariant Identifiers: chr10:g.96081666A>G (hg19) ; chr10:g.94321909A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94321909A>G , CM000672.2:g.94321909A>G	GRCh38
NC_000010.10:g.96081666A>G , CM000672.1:g.96081666A>G	GRCh37
NC_000010.9:g.96071656A>G	NCBI36
NG_015799.1:g.332921A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.5427A>G (PLCE1)	ENSP00000360426.1:p.Glu1809=
ENST00000685132.1:n.3750A>G (PLCE1)
ENST00000685253.1:c.*2894A>G (PLCE1)	ENSP00000509405.1:n.*2894A>G
ENST00000685889.1:n.3086A>G (PLCE1)
ENST00000686807.1:n.1770A>G (PLCE1)
ENST00000686954.1:c.*1635A>G (PLCE1)	ENSP00000508416.1:n.*1635A>G
ENST00000688810.1:c.5379A>G (PLCE1)	ENSP00000509140.1:p.Glu1793=
ENST00000689233.1:n.10559A>G (PLCE1)
ENST00000690340.1:n.4024A>G (PLCE1)
ENST00000692286.1:c.6219A>G (PLCE1)	ENSP00000509490.1:p.Glu2073=
ENST00000692396.1:c.6303A>G (PLCE1)	ENSP00000508605.1:p.Glu2101=
ENST00000371380.8:c.6351A>G (PLCE1) MANE Select	ENSP00000360431.2:p.Glu2117=
ENST00000371385.8:c.5325A>G (PLCE1)	ENSP00000360438.4:p.Glu1775=
ENST00000674738.1:c.4906A>G (PLCE1)
ENST00000674827.1:c.4467A>G (PLCE1)	ENSP00000502523.1:p.Glu1489=
ENST00000675218.1:c.5427A>G (PLCE1)	ENSP00000501910.1:p.Glu1809=
ENST00000675487.1:c.*2284A>G (PLCE1)	ENSP00000502340.1:n.*2284A>G
ENST00000675718.1:c.5620A>G (PLCE1)
ENST00000260766.7:c.6351A>G (PLCE1)	ENSP00000260766.3:p.Glu2117=
ENST00000371375.1:c.5427A>G (PLCE1)	ENSP00000360426.1:p.Glu1809=
ENST00000371380.7:c.6351A>G (PLCE1)	ENSP00000360431.2:p.Glu2117=
ENST00000371385.7:c.5427A>G (PLCE1)	ENSP00000360438.3:p.Glu1809=
NM_001165979.2:c.5427A>G (PLCE1)	NP_001159451.1:p.Glu1809=
NM_001288989.1:c.6303A>G (PLCE1)	NP_001275918.1:p.Glu2101=
NM_016341.3:c.6351A>G (PLCE1)	NP_057425.3:p.Glu2117=
XM_006717885.2:c.6393A>G (PLCE1)	XP_006717948.1:p.Glu2131=
XM_006717886.2:c.6393A>G (PLCE1)	XP_006717949.1:p.Glu2131=
XM_006717888.2:c.6390A>G (PLCE1)	XP_006717951.1:p.Glu2130=
XM_006717889.2:c.6345A>G (PLCE1)	XP_006717952.1:p.Glu2115=
XM_006717890.1:c.5469A>G (PLCE1)	XP_006717953.1:p.Glu1823=
XM_011539849.1:c.6393A>G (PLCE1)	XP_011538151.1:p.Glu2131=
XM_011539850.1:c.5238A>G (PLCE1)	XP_011538152.1:p.Glu1746=
XR_945799.1:n.3311-6445T>C (NOC3L)
XM_006717885.4:c.6393A>G (PLCE1)	XP_006717948.1:p.Glu2131=
XM_006717888.4:c.6390A>G (PLCE1)	XP_006717951.1:p.Glu2130=
XM_006717889.4:c.6345A>G (PLCE1)	XP_006717952.1:p.Glu2115=
XM_006717890.3:c.5469A>G (PLCE1)	XP_006717953.1:p.Glu1823=
XM_011539849.3:c.6393A>G (PLCE1)	XP_011538151.1:p.Glu2131=
XM_011539850.3:c.5238A>G (PLCE1)	XP_011538152.1:p.Glu1746=
XM_017016310.2:c.6393A>G (PLCE1)	XP_016871799.1:p.Glu2131=
XM_017016311.2:c.6393A>G (PLCE1)	XP_016871800.1:p.Glu2131=
XM_017016312.2:c.5379A>G (PLCE1)	XP_016871801.1:p.Glu1793=
XR_002957007.1:n.3312-6445T>C (NOC3L)
NM_001288989.2:c.6303A>G (PLCE1)	NP_001275918.1:p.Glu2101=
NM_016341.4:c.6351A>G (PLCE1) MANE Select	NP_057425.3:p.Glu2117=