Canonical Allele Identifier: CA377648132

Gene: PLCE1 NOC3L

Linked Data

• gnomAD v4: 10-94321919-A-G
• MyVariant Identifiers: chr10:g.96081676A>G (hg19) ; chr10:g.94321919A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94321919A>G , CM000672.2:g.94321919A>G	GRCh38
NC_000010.10:g.96081676A>G , CM000672.1:g.96081676A>G	GRCh37
NC_000010.9:g.96071666A>G	NCBI36
NG_015799.1:g.332931A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.5437A>G (PLCE1)	ENSP00000360426.1:p.Ile1813Val
ENST00000685132.1:n.3760A>G (PLCE1)
ENST00000685253.1:c.*2904A>G (PLCE1)	ENSP00000509405.1:n.*2904A>G
ENST00000685889.1:n.3096A>G (PLCE1)
ENST00000686807.1:n.1780A>G (PLCE1)
ENST00000686954.1:c.*1645A>G (PLCE1)	ENSP00000508416.1:n.*1645A>G
ENST00000688810.1:c.5389A>G (PLCE1)	ENSP00000509140.1:p.Ile1797Val
ENST00000689233.1:n.10569A>G (PLCE1)
ENST00000690340.1:n.4034A>G (PLCE1)
ENST00000692286.1:c.6229A>G (PLCE1)	ENSP00000509490.1:p.Ile2077Val
ENST00000692396.1:c.6313A>G (PLCE1)	ENSP00000508605.1:p.Ile2105Val
ENST00000371380.8:c.6361A>G (PLCE1) MANE Select	ENSP00000360431.2:p.Ile2121Val
ENST00000371385.8:c.5335A>G (PLCE1)	ENSP00000360438.4:p.Ile1779Val
ENST00000674738.1:c.4916A>G (PLCE1)
ENST00000674827.1:c.4477A>G (PLCE1)	ENSP00000502523.1:p.Ile1493Val
ENST00000675218.1:c.5437A>G (PLCE1)	ENSP00000501910.1:p.Ile1813Val
ENST00000675487.1:c.*2294A>G (PLCE1)	ENSP00000502340.1:n.*2294A>G
ENST00000675718.1:c.5630A>G (PLCE1)
ENST00000260766.7:c.6361A>G (PLCE1)	ENSP00000260766.3:p.Ile2121Val
ENST00000371375.1:c.5437A>G (PLCE1)	ENSP00000360426.1:p.Ile1813Val
ENST00000371380.7:c.6361A>G (PLCE1)	ENSP00000360431.2:p.Ile2121Val
ENST00000371385.7:c.5437A>G (PLCE1)	ENSP00000360438.3:p.Ile1813Val
NM_001165979.2:c.5437A>G (PLCE1)	NP_001159451.1:p.Ile1813Val
NM_001288989.1:c.6313A>G (PLCE1)	NP_001275918.1:p.Ile2105Val
NM_016341.3:c.6361A>G (PLCE1)	NP_057425.3:p.Ile2121Val
XM_006717885.2:c.6403A>G (PLCE1)	XP_006717948.1:p.Ile2135Val
XM_006717886.2:c.6403A>G (PLCE1)	XP_006717949.1:p.Ile2135Val
XM_006717888.2:c.6400A>G (PLCE1)	XP_006717951.1:p.Ile2134Val
XM_006717889.2:c.6355A>G (PLCE1)	XP_006717952.1:p.Ile2119Val
XM_006717890.1:c.5479A>G (PLCE1)	XP_006717953.1:p.Ile1827Val
XM_011539849.1:c.6403A>G (PLCE1)	XP_011538151.1:p.Ile2135Val
XM_011539850.1:c.5248A>G (PLCE1)	XP_011538152.1:p.Ile1750Val
XR_945799.1:n.3311-6455T>C (NOC3L)
XM_006717885.4:c.6403A>G (PLCE1)	XP_006717948.1:p.Ile2135Val
XM_006717888.4:c.6400A>G (PLCE1)	XP_006717951.1:p.Ile2134Val
XM_006717889.4:c.6355A>G (PLCE1)	XP_006717952.1:p.Ile2119Val
XM_006717890.3:c.5479A>G (PLCE1)	XP_006717953.1:p.Ile1827Val
XM_011539849.3:c.6403A>G (PLCE1)	XP_011538151.1:p.Ile2135Val
XM_011539850.3:c.5248A>G (PLCE1)	XP_011538152.1:p.Ile1750Val
XM_017016310.2:c.6403A>G (PLCE1)	XP_016871799.1:p.Ile2135Val
XM_017016311.2:c.6403A>G (PLCE1)	XP_016871800.1:p.Ile2135Val
XM_017016312.2:c.5389A>G (PLCE1)	XP_016871801.1:p.Ile1797Val
XR_002957007.1:n.3312-6455T>C (NOC3L)
NM_001288989.2:c.6313A>G (PLCE1)	NP_001275918.1:p.Ile2105Val
NM_016341.4:c.6361A>G (PLCE1) MANE Select	NP_057425.3:p.Ile2121Val