Canonical Allele Identifier: CA377641857

Gene: PLCE1

Linked Data

• MyVariant Identifiers: chr10:g.96058232A>T (hg19) ; chr10:g.94298475A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94298475A>T , CM000672.2:g.94298475A>T	GRCh38
NC_000010.10:g.96058232A>T , CM000672.1:g.96058232A>T	GRCh37
NC_000010.9:g.96048222A>T	NCBI36
NG_015799.1:g.309487A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.4340A>T	ENSP00000360426.1:p.Tyr1447Phe
ENST00000685253.1:c.*1807A>T	ENSP00000509405.1:n.*1807A>T
ENST00000685889.1:n.1999A>T
ENST00000686807.1:n.683A>T
ENST00000686954.1:c.*548A>T	ENSP00000508416.1:n.*548A>T
ENST00000688810.1:c.4292A>T	ENSP00000509140.1:p.Tyr1431Phe
ENST00000689233.1:n.9472A>T
ENST00000690340.1:n.2937A>T
ENST00000692286.1:c.5132A>T	ENSP00000509490.1:p.Tyr1711Phe
ENST00000692396.1:c.5216A>T	ENSP00000508605.1:p.Tyr1739Phe
ENST00000371380.8:c.5264A>T MANE Select	ENSP00000360431.2:p.Tyr1755Phe
ENST00000371385.8:c.4238A>T	ENSP00000360438.4:p.Tyr1413Phe
ENST00000674738.1:c.3819A>T
ENST00000674827.1:c.3380A>T	ENSP00000502523.1:p.Tyr1127Phe
ENST00000675218.1:c.4340A>T	ENSP00000501910.1:p.Tyr1447Phe
ENST00000675487.1:c.*1197A>T	ENSP00000502340.1:n.*1197A>T
ENST00000675718.1:c.4533A>T
ENST00000676102.1:c.4109A>T	ENSP00000502811.1:p.Tyr1370Phe
ENST00000260766.7:c.5264A>T	ENSP00000260766.3:p.Tyr1755Phe
ENST00000371375.1:c.4340A>T	ENSP00000360426.1:p.Tyr1447Phe
ENST00000371380.7:c.5264A>T	ENSP00000360431.2:p.Tyr1755Phe
ENST00000371385.7:c.4340A>T	ENSP00000360438.3:p.Tyr1447Phe
NM_001165979.2:c.4340A>T	NP_001159451.1:p.Tyr1447Phe
NM_001288989.1:c.5216A>T	NP_001275918.1:p.Tyr1739Phe
NM_016341.3:c.5264A>T	NP_057425.3:p.Tyr1755Phe
XM_006717885.2:c.5306A>T	XP_006717948.1:p.Tyr1769Phe
XM_006717886.2:c.5306A>T	XP_006717949.1:p.Tyr1769Phe
XM_006717888.2:c.5303A>T	XP_006717951.1:p.Tyr1768Phe
XM_006717889.2:c.5258A>T	XP_006717952.1:p.Tyr1753Phe
XM_006717890.1:c.4382A>T	XP_006717953.1:p.Tyr1461Phe
XM_011539849.1:c.5306A>T	XP_011538151.1:p.Tyr1769Phe
XM_011539850.1:c.4151A>T	XP_011538152.1:p.Tyr1384Phe
XM_006717885.4:c.5306A>T	XP_006717948.1:p.Tyr1769Phe
XM_006717888.4:c.5303A>T	XP_006717951.1:p.Tyr1768Phe
XM_006717889.4:c.5258A>T	XP_006717952.1:p.Tyr1753Phe
XM_006717890.3:c.4382A>T	XP_006717953.1:p.Tyr1461Phe
XM_011539849.3:c.5306A>T	XP_011538151.1:p.Tyr1769Phe
XM_011539850.3:c.4151A>T	XP_011538152.1:p.Tyr1384Phe
XM_017016310.2:c.5306A>T	XP_016871799.1:p.Tyr1769Phe
XM_017016311.2:c.5306A>T	XP_016871800.1:p.Tyr1769Phe
XM_017016312.2:c.4292A>T	XP_016871801.1:p.Tyr1431Phe
NM_001288989.2:c.5216A>T	NP_001275918.1:p.Tyr1739Phe
NM_016341.4:c.5264A>T MANE Select	NP_057425.3:p.Tyr1755Phe