Canonical Allele Identifier: CA377642143

Gene: PLCE1

Linked Data

• ClinVar Variation Id: 1994360
• ClinVar RCV Id: RCV002819021
• MyVariant Identifiers: chr10:g.96058367A>G (hg19) ; chr10:g.94298610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298610A>G , CM000672.2:g.94298610A>G	GRCh38
NC_000010.10:g.96058367A>G , CM000672.1:g.96058367A>G	GRCh37
NC_000010.9:g.96048357A>G	NCBI36
NG_015799.1:g.309622A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4475A>G	ENSP00000360426.1:p.Asn1492Ser
ENST00000685253.1:c.*1942A>G	ENSP00000509405.1:n.*1942A>G
ENST00000685889.1:n.2134A>G
ENST00000686807.1:n.818A>G
ENST00000686954.1:c.*683A>G	ENSP00000508416.1:n.*683A>G
ENST00000688810.1:c.4427A>G	ENSP00000509140.1:p.Asn1476Ser
ENST00000689233.1:n.9607A>G
ENST00000690340.1:n.3072A>G
ENST00000692286.1:c.5267A>G	ENSP00000509490.1:p.Asn1756Ser
ENST00000692396.1:c.5351A>G	ENSP00000508605.1:p.Asn1784Ser
ENST00000371380.8:c.5399A>G MANE Select	ENSP00000360431.2:p.Asn1800Ser
ENST00000371385.8:c.4373A>G	ENSP00000360438.4:p.Asn1458Ser
ENST00000674738.1:c.3954A>G
ENST00000674827.1:c.3515A>G	ENSP00000502523.1:p.Asn1172Ser
ENST00000675218.1:c.4475A>G	ENSP00000501910.1:p.Asn1492Ser
ENST00000675487.1:c.*1332A>G	ENSP00000502340.1:n.*1332A>G
ENST00000675718.1:c.4668A>G
ENST00000260766.7:c.5399A>G	ENSP00000260766.3:p.Asn1800Ser
ENST00000371375.1:c.4475A>G	ENSP00000360426.1:p.Asn1492Ser
ENST00000371380.7:c.5399A>G	ENSP00000360431.2:p.Asn1800Ser
ENST00000371385.7:c.4475A>G	ENSP00000360438.3:p.Asn1492Ser
NM_001165979.2:c.4475A>G	NP_001159451.1:p.Asn1492Ser
NM_001288989.1:c.5351A>G	NP_001275918.1:p.Asn1784Ser
NM_016341.3:c.5399A>G	NP_057425.3:p.Asn1800Ser
XM_006717885.2:c.5441A>G	XP_006717948.1:p.Asn1814Ser
XM_006717886.2:c.5441A>G	XP_006717949.1:p.Asn1814Ser
XM_006717888.2:c.5438A>G	XP_006717951.1:p.Asn1813Ser
XM_006717889.2:c.5393A>G	XP_006717952.1:p.Asn1798Ser
XM_006717890.1:c.4517A>G	XP_006717953.1:p.Asn1506Ser
XM_011539849.1:c.5441A>G	XP_011538151.1:p.Asn1814Ser
XM_011539850.1:c.4286A>G	XP_011538152.1:p.Asn1429Ser
XM_006717885.4:c.5441A>G	XP_006717948.1:p.Asn1814Ser
XM_006717888.4:c.5438A>G	XP_006717951.1:p.Asn1813Ser
XM_006717889.4:c.5393A>G	XP_006717952.1:p.Asn1798Ser
XM_006717890.3:c.4517A>G	XP_006717953.1:p.Asn1506Ser
XM_011539849.3:c.5441A>G	XP_011538151.1:p.Asn1814Ser
XM_011539850.3:c.4286A>G	XP_011538152.1:p.Asn1429Ser
XM_017016310.2:c.5441A>G	XP_016871799.1:p.Asn1814Ser
XM_017016311.2:c.5441A>G	XP_016871800.1:p.Asn1814Ser
XM_017016312.2:c.4427A>G	XP_016871801.1:p.Asn1476Ser
NM_001288989.2:c.5351A>G	NP_001275918.1:p.Asn1784Ser
NM_016341.4:c.5399A>G MANE Select	NP_057425.3:p.Asn1800Ser