Canonical Allele Identifier: CA377640915

Gene: PLCE1

Linked Data

• gnomAD v4: 10-94293623-C-A
• MyVariant Identifiers: chr10:g.96053380C>A (hg19) ; chr10:g.94293623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293623C>A , CM000672.2:g.94293623C>A	GRCh38
NC_000010.10:g.96053380C>A , CM000672.1:g.96053380C>A	GRCh37
NC_000010.9:g.96043370C>A	NCBI36
NG_015799.1:g.304635C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4227C>A	ENSP00000360426.1:p.Asn1409Lys
ENST00000685253.1:c.*1694C>A	ENSP00000509405.1:n.*1694C>A
ENST00000685889.1:n.1886C>A
ENST00000686807.1:n.570C>A
ENST00000686954.1:c.*435C>A	ENSP00000508416.1:n.*435C>A
ENST00000688810.1:c.4179C>A	ENSP00000509140.1:p.Asn1393Lys
ENST00000689233.1:n.9359C>A
ENST00000690340.1:n.2824C>A
ENST00000692286.1:c.5036-4756C>A	ENSP00000509490.1:n.5036-4756C>A
ENST00000692396.1:c.5103C>A	ENSP00000508605.1:p.Asn1701Lys
ENST00000371380.8:c.5151C>A MANE Select	ENSP00000360431.2:p.Asn1717Lys
ENST00000371385.8:c.4125C>A	ENSP00000360438.4:p.Asn1375Lys
ENST00000674738.1:c.3706C>A
ENST00000674827.1:c.3267C>A	ENSP00000502523.1:p.Asn1089Lys
ENST00000675218.1:c.4227C>A	ENSP00000501910.1:p.Asn1409Lys
ENST00000675487.1:c.*1084C>A	ENSP00000502340.1:n.*1084C>A
ENST00000675718.1:c.4420C>A
ENST00000676102.1:c.3996C>A	ENSP00000502811.1:p.Asn1332Lys
ENST00000260766.7:c.5151C>A	ENSP00000260766.3:p.Asn1717Lys
ENST00000371375.1:c.4227C>A	ENSP00000360426.1:p.Asn1409Lys
ENST00000371380.7:c.5151C>A	ENSP00000360431.2:p.Asn1717Lys
ENST00000371385.7:c.4227C>A	ENSP00000360438.3:p.Asn1409Lys
NM_001165979.2:c.4227C>A	NP_001159451.1:p.Asn1409Lys
NM_001288989.1:c.5103C>A	NP_001275918.1:p.Asn1701Lys
NM_016341.3:c.5151C>A	NP_057425.3:p.Asn1717Lys
XM_006717885.2:c.5193C>A	XP_006717948.1:p.Asn1731Lys
XM_006717886.2:c.5193C>A	XP_006717949.1:p.Asn1731Lys
XM_006717888.2:c.5190C>A	XP_006717951.1:p.Asn1730Lys
XM_006717889.2:c.5145C>A	XP_006717952.1:p.Asn1715Lys
XM_006717890.1:c.4269C>A	XP_006717953.1:p.Asn1423Lys
XM_011539849.1:c.5193C>A	XP_011538151.1:p.Asn1731Lys
XM_011539850.1:c.4038C>A	XP_011538152.1:p.Asn1346Lys
XM_006717885.4:c.5193C>A	XP_006717948.1:p.Asn1731Lys
XM_006717888.4:c.5190C>A	XP_006717951.1:p.Asn1730Lys
XM_006717889.4:c.5145C>A	XP_006717952.1:p.Asn1715Lys
XM_006717890.3:c.4269C>A	XP_006717953.1:p.Asn1423Lys
XM_011539849.3:c.5193C>A	XP_011538151.1:p.Asn1731Lys
XM_011539850.3:c.4038C>A	XP_011538152.1:p.Asn1346Lys
XM_017016310.2:c.5193C>A	XP_016871799.1:p.Asn1731Lys
XM_017016311.2:c.5193C>A	XP_016871800.1:p.Asn1731Lys
XM_017016312.2:c.4179C>A	XP_016871801.1:p.Asn1393Lys
NM_001288989.2:c.5103C>A	NP_001275918.1:p.Asn1701Lys
NM_016341.4:c.5151C>A MANE Select	NP_057425.3:p.Asn1717Lys