Canonical Allele Identifier: CA470807552

Gene: PLCE1

Linked Data

• dbSNP Id: rs2052710434
• gnomAD v3: 10-94293581-C-T
• gnomAD v4: 10-94293581-C-T
• MyVariant Identifiers: chr10:g.96053338C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94293581C>T , CM000672.2:g.94293581C>T	GRCh38
NC_000010.10:g.96053338C>T , CM000672.1:g.96053338C>T	GRCh37
NC_000010.9:g.96043328C>T	NCBI36
NG_015799.1:g.304593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4185C>T	ENSP00000360426.1:p.Asn1395=
ENST00000685253.1:c.*1652C>T	ENSP00000509405.1:n.*1652C>T
ENST00000685889.1:n.1844C>T
ENST00000686807.1:n.528C>T
ENST00000686954.1:c.*393C>T	ENSP00000508416.1:n.*393C>T
ENST00000688810.1:c.4137C>T	ENSP00000509140.1:p.Asn1379=
ENST00000689233.1:n.9317C>T
ENST00000690340.1:n.2782C>T
ENST00000692286.1:c.5036-4798C>T	ENSP00000509490.1:n.5036-4798C>T
ENST00000692396.1:c.5061C>T	ENSP00000508605.1:p.Asn1687=
ENST00000371380.8:c.5109C>T MANE Select	ENSP00000360431.2:p.Asn1703=
ENST00000371385.8:c.4083C>T	ENSP00000360438.4:p.Asn1361=
ENST00000674738.1:c.3664C>T
ENST00000674827.1:c.3225C>T	ENSP00000502523.1:p.Asn1075=
ENST00000675218.1:c.4185C>T	ENSP00000501910.1:p.Asn1395=
ENST00000675487.1:c.*1042C>T	ENSP00000502340.1:n.*1042C>T
ENST00000675718.1:c.4378C>T
ENST00000676102.1:c.3954C>T	ENSP00000502811.1:p.Asn1318=
ENST00000260766.7:c.5109C>T	ENSP00000260766.3:p.Asn1703=
ENST00000371375.1:c.4185C>T	ENSP00000360426.1:p.Asn1395=
ENST00000371380.7:c.5109C>T	ENSP00000360431.2:p.Asn1703=
ENST00000371385.7:c.4185C>T	ENSP00000360438.3:p.Asn1395=
NM_001165979.2:c.4185C>T	NP_001159451.1:p.Asn1395=
NM_001288989.1:c.5061C>T	NP_001275918.1:p.Asn1687=
NM_016341.3:c.5109C>T	NP_057425.3:p.Asn1703=
XM_006717885.2:c.5151C>T	XP_006717948.1:p.Asn1717=
XM_006717886.2:c.5151C>T	XP_006717949.1:p.Asn1717=
XM_006717888.2:c.5148C>T	XP_006717951.1:p.Asn1716=
XM_006717889.2:c.5103C>T	XP_006717952.1:p.Asn1701=
XM_006717890.1:c.4227C>T	XP_006717953.1:p.Asn1409=
XM_011539849.1:c.5151C>T	XP_011538151.1:p.Asn1717=
XM_011539850.1:c.3996C>T	XP_011538152.1:p.Asn1332=
XM_006717885.4:c.5151C>T	XP_006717948.1:p.Asn1717=
XM_006717888.4:c.5148C>T	XP_006717951.1:p.Asn1716=
XM_006717889.4:c.5103C>T	XP_006717952.1:p.Asn1701=
XM_006717890.3:c.4227C>T	XP_006717953.1:p.Asn1409=
XM_011539849.3:c.5151C>T	XP_011538151.1:p.Asn1717=
XM_011539850.3:c.3996C>T	XP_011538152.1:p.Asn1332=
XM_017016310.2:c.5151C>T	XP_016871799.1:p.Asn1717=
XM_017016311.2:c.5151C>T	XP_016871800.1:p.Asn1717=
XM_017016312.2:c.4137C>T	XP_016871801.1:p.Asn1379=
NM_001288989.2:c.5061C>T	NP_001275918.1:p.Asn1687=
NM_016341.4:c.5109C>T MANE Select	NP_057425.3:p.Asn1703=