Canonical Allele Identifier: CA470986429

Gene: PLCE1

Linked Data

• dbSNP Id: rs1415983816
• gnomAD v2: 10-96058182-T-C
• gnomAD v4: 10-94298425-T-C
• MyVariant Identifiers: chr10:g.96058182T>C (hg19) ; chr10:g.94298425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298425T>C , CM000672.2:g.94298425T>C	GRCh38
NC_000010.10:g.96058182T>C , CM000672.1:g.96058182T>C	GRCh37
NC_000010.9:g.96048172T>C	NCBI36
NG_015799.1:g.309437T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4290T>C	ENSP00000360426.1:p.Pro1430=
ENST00000685253.1:c.*1757T>C	ENSP00000509405.1:n.*1757T>C
ENST00000685889.1:n.1949T>C
ENST00000686807.1:n.633T>C
ENST00000686954.1:c.*498T>C	ENSP00000508416.1:n.*498T>C
ENST00000688810.1:c.4242T>C	ENSP00000509140.1:p.Pro1414=
ENST00000689233.1:n.9422T>C
ENST00000690340.1:n.2887T>C
ENST00000692286.1:c.5082T>C	ENSP00000509490.1:p.Pro1694=
ENST00000692396.1:c.5166T>C	ENSP00000508605.1:p.Pro1722=
ENST00000371380.8:c.5214T>C MANE Select	ENSP00000360431.2:p.Pro1738=
ENST00000371385.8:c.4188T>C	ENSP00000360438.4:p.Pro1396=
ENST00000674738.1:c.3769T>C
ENST00000674827.1:c.3330T>C	ENSP00000502523.1:p.Pro1110=
ENST00000675218.1:c.4290T>C	ENSP00000501910.1:p.Pro1430=
ENST00000675487.1:c.*1147T>C	ENSP00000502340.1:n.*1147T>C
ENST00000675718.1:c.4483T>C
ENST00000676102.1:c.4059T>C	ENSP00000502811.1:p.Pro1353=
ENST00000260766.7:c.5214T>C	ENSP00000260766.3:p.Pro1738=
ENST00000371375.1:c.4290T>C	ENSP00000360426.1:p.Pro1430=
ENST00000371380.7:c.5214T>C	ENSP00000360431.2:p.Pro1738=
ENST00000371385.7:c.4290T>C	ENSP00000360438.3:p.Pro1430=
NM_001165979.2:c.4290T>C	NP_001159451.1:p.Pro1430=
NM_001288989.1:c.5166T>C	NP_001275918.1:p.Pro1722=
NM_016341.3:c.5214T>C	NP_057425.3:p.Pro1738=
XM_006717885.2:c.5256T>C	XP_006717948.1:p.Pro1752=
XM_006717886.2:c.5256T>C	XP_006717949.1:p.Pro1752=
XM_006717888.2:c.5253T>C	XP_006717951.1:p.Pro1751=
XM_006717889.2:c.5208T>C	XP_006717952.1:p.Pro1736=
XM_006717890.1:c.4332T>C	XP_006717953.1:p.Pro1444=
XM_011539849.1:c.5256T>C	XP_011538151.1:p.Pro1752=
XM_011539850.1:c.4101T>C	XP_011538152.1:p.Pro1367=
XM_006717885.4:c.5256T>C	XP_006717948.1:p.Pro1752=
XM_006717888.4:c.5253T>C	XP_006717951.1:p.Pro1751=
XM_006717889.4:c.5208T>C	XP_006717952.1:p.Pro1736=
XM_006717890.3:c.4332T>C	XP_006717953.1:p.Pro1444=
XM_011539849.3:c.5256T>C	XP_011538151.1:p.Pro1752=
XM_011539850.3:c.4101T>C	XP_011538152.1:p.Pro1367=
XM_017016310.2:c.5256T>C	XP_016871799.1:p.Pro1752=
XM_017016311.2:c.5256T>C	XP_016871800.1:p.Pro1752=
XM_017016312.2:c.4242T>C	XP_016871801.1:p.Pro1414=
NM_001288989.2:c.5166T>C	NP_001275918.1:p.Pro1722=
NM_016341.4:c.5214T>C MANE Select	NP_057425.3:p.Pro1738=