Canonical Allele Identifier: CA377642139

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058366A>C (hg19) ; chr10:g.94298609A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298609A>C , CM000672.2:g.94298609A>C	GRCh38
NC_000010.10:g.96058366A>C , CM000672.1:g.96058366A>C	GRCh37
NC_000010.9:g.96048356A>C	NCBI36
NG_015799.1:g.309621A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4474A>C	ENSP00000360426.1:p.Asn1492His
ENST00000685253.1:c.*1941A>C	ENSP00000509405.1:n.*1941A>C
ENST00000685889.1:n.2133A>C
ENST00000686807.1:n.817A>C
ENST00000686954.1:c.*682A>C	ENSP00000508416.1:n.*682A>C
ENST00000688810.1:c.4426A>C	ENSP00000509140.1:p.Asn1476His
ENST00000689233.1:n.9606A>C
ENST00000690340.1:n.3071A>C
ENST00000692286.1:c.5266A>C	ENSP00000509490.1:p.Asn1756His
ENST00000692396.1:c.5350A>C	ENSP00000508605.1:p.Asn1784His
ENST00000371380.8:c.5398A>C MANE Select	ENSP00000360431.2:p.Asn1800His
ENST00000371385.8:c.4372A>C	ENSP00000360438.4:p.Asn1458His
ENST00000674738.1:c.3953A>C
ENST00000674827.1:c.3514A>C	ENSP00000502523.1:p.Asn1172His
ENST00000675218.1:c.4474A>C	ENSP00000501910.1:p.Asn1492His
ENST00000675487.1:c.*1331A>C	ENSP00000502340.1:n.*1331A>C
ENST00000675718.1:c.4667A>C
ENST00000260766.7:c.5398A>C	ENSP00000260766.3:p.Asn1800His
ENST00000371375.1:c.4474A>C	ENSP00000360426.1:p.Asn1492His
ENST00000371380.7:c.5398A>C	ENSP00000360431.2:p.Asn1800His
ENST00000371385.7:c.4474A>C	ENSP00000360438.3:p.Asn1492His
NM_001165979.2:c.4474A>C	NP_001159451.1:p.Asn1492His
NM_001288989.1:c.5350A>C	NP_001275918.1:p.Asn1784His
NM_016341.3:c.5398A>C	NP_057425.3:p.Asn1800His
XM_006717885.2:c.5440A>C	XP_006717948.1:p.Asn1814His
XM_006717886.2:c.5440A>C	XP_006717949.1:p.Asn1814His
XM_006717888.2:c.5437A>C	XP_006717951.1:p.Asn1813His
XM_006717889.2:c.5392A>C	XP_006717952.1:p.Asn1798His
XM_006717890.1:c.4516A>C	XP_006717953.1:p.Asn1506His
XM_011539849.1:c.5440A>C	XP_011538151.1:p.Asn1814His
XM_011539850.1:c.4285A>C	XP_011538152.1:p.Asn1429His
XM_006717885.4:c.5440A>C	XP_006717948.1:p.Asn1814His
XM_006717888.4:c.5437A>C	XP_006717951.1:p.Asn1813His
XM_006717889.4:c.5392A>C	XP_006717952.1:p.Asn1798His
XM_006717890.3:c.4516A>C	XP_006717953.1:p.Asn1506His
XM_011539849.3:c.5440A>C	XP_011538151.1:p.Asn1814His
XM_011539850.3:c.4285A>C	XP_011538152.1:p.Asn1429His
XM_017016310.2:c.5440A>C	XP_016871799.1:p.Asn1814His
XM_017016311.2:c.5440A>C	XP_016871800.1:p.Asn1814His
XM_017016312.2:c.4426A>C	XP_016871801.1:p.Asn1476His
NM_001288989.2:c.5350A>C	NP_001275918.1:p.Asn1784His
NM_016341.4:c.5398A>C MANE Select	NP_057425.3:p.Asn1800His