Canonical Allele Identifier: CA377641853

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058231T>C (hg19) ; chr10:g.94298474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298474T>C , CM000672.2:g.94298474T>C	GRCh38
NC_000010.10:g.96058231T>C , CM000672.1:g.96058231T>C	GRCh37
NC_000010.9:g.96048221T>C	NCBI36
NG_015799.1:g.309486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371375.2:c.4339T>C	ENSP00000360426.1:p.Tyr1447His
ENST00000685253.1:c.*1806T>C	ENSP00000509405.1:n.*1806T>C
ENST00000685889.1:n.1998T>C
ENST00000686807.1:n.682T>C
ENST00000686954.1:c.*547T>C	ENSP00000508416.1:n.*547T>C
ENST00000688810.1:c.4291T>C	ENSP00000509140.1:p.Tyr1431His
ENST00000689233.1:n.9471T>C
ENST00000690340.1:n.2936T>C
ENST00000692286.1:c.5131T>C	ENSP00000509490.1:p.Tyr1711His
ENST00000692396.1:c.5215T>C	ENSP00000508605.1:p.Tyr1739His
ENST00000371380.8:c.5263T>C MANE Select	ENSP00000360431.2:p.Tyr1755His
ENST00000371385.8:c.4237T>C	ENSP00000360438.4:p.Tyr1413His
ENST00000674738.1:c.3818T>C
ENST00000674827.1:c.3379T>C	ENSP00000502523.1:p.Tyr1127His
ENST00000675218.1:c.4339T>C	ENSP00000501910.1:p.Tyr1447His
ENST00000675487.1:c.*1196T>C	ENSP00000502340.1:n.*1196T>C
ENST00000675718.1:c.4532T>C
ENST00000676102.1:c.4108T>C	ENSP00000502811.1:p.Tyr1370His
ENST00000260766.7:c.5263T>C	ENSP00000260766.3:p.Tyr1755His
ENST00000371375.1:c.4339T>C	ENSP00000360426.1:p.Tyr1447His
ENST00000371380.7:c.5263T>C	ENSP00000360431.2:p.Tyr1755His
ENST00000371385.7:c.4339T>C	ENSP00000360438.3:p.Tyr1447His
NM_001165979.2:c.4339T>C	NP_001159451.1:p.Tyr1447His
NM_001288989.1:c.5215T>C	NP_001275918.1:p.Tyr1739His
NM_016341.3:c.5263T>C	NP_057425.3:p.Tyr1755His
XM_006717885.2:c.5305T>C	XP_006717948.1:p.Tyr1769His
XM_006717886.2:c.5305T>C	XP_006717949.1:p.Tyr1769His
XM_006717888.2:c.5302T>C	XP_006717951.1:p.Tyr1768His
XM_006717889.2:c.5257T>C	XP_006717952.1:p.Tyr1753His
XM_006717890.1:c.4381T>C	XP_006717953.1:p.Tyr1461His
XM_011539849.1:c.5305T>C	XP_011538151.1:p.Tyr1769His
XM_011539850.1:c.4150T>C	XP_011538152.1:p.Tyr1384His
XM_006717885.4:c.5305T>C	XP_006717948.1:p.Tyr1769His
XM_006717888.4:c.5302T>C	XP_006717951.1:p.Tyr1768His
XM_006717889.4:c.5257T>C	XP_006717952.1:p.Tyr1753His
XM_006717890.3:c.4381T>C	XP_006717953.1:p.Tyr1461His
XM_011539849.3:c.5305T>C	XP_011538151.1:p.Tyr1769His
XM_011539850.3:c.4150T>C	XP_011538152.1:p.Tyr1384His
XM_017016310.2:c.5305T>C	XP_016871799.1:p.Tyr1769His
XM_017016311.2:c.5305T>C	XP_016871800.1:p.Tyr1769His
XM_017016312.2:c.4291T>C	XP_016871801.1:p.Tyr1431His
NM_001288989.2:c.5215T>C	NP_001275918.1:p.Tyr1739His
NM_016341.4:c.5263T>C MANE Select	NP_057425.3:p.Tyr1755His