Canonical Allele Identifier: CA377642064
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94298573T>C , CM000672.2:g.94298573T>C GRCh38
NC_000010.10:g.96058330T>C , CM000672.1:g.96058330T>C GRCh37
NC_000010.9:g.96048320T>C NCBI36
NG_015799.1:g.309585T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:n.4438T>C ENSP00000360426.1:p.Tyr1480His
ENST00000685253.1:c.*1905T>C ENSP00000509405.1:n.*1905T>C
ENST00000685889.1:n.2097T>C
ENST00000686807.1:n.781T>C
ENST00000686954.1:c.*646T>C ENSP00000508416.1:n.*646T>C
ENST00000688810.1:n.4390T>C ENSP00000509140.1:p.Tyr1464His
ENST00000689233.1:n.9570T>C
ENST00000690340.1:n.3035T>C
ENST00000692286.1:c.5230T>C ENSP00000509490.1:p.Tyr1744His
ENST00000692396.1:c.5314T>C ENSP00000508605.1:p.Tyr1772His
ENST00000371380.8:c.5362T>C MANE Select ENSP00000360431.2:p.Tyr1788His
ENST00000371385.8:c.4336T>C ENSP00000360438.4:p.Tyr1446His
ENST00000674738.1:n.3917T>C
ENST00000674827.1:n.3478T>C ENSP00000502523.1:p.Tyr1160His
ENST00000675218.1:n.4438T>C ENSP00000501910.1:p.Tyr1480His
ENST00000675487.1:c.*1295T>C ENSP00000502340.1:n.*1295T>C
ENST00000675718.1:n.4631T>C
ENST00000260766.7:c.5362T>C ENSP00000260766.3:p.Tyr1788His
ENST00000371375.1:n.4438T>C ENSP00000360426.1:p.Tyr1480His
ENST00000371380.7:c.5362T>C ENSP00000360431.2:p.Tyr1788His
ENST00000371385.7:c.4438T>C ENSP00000360438.3:p.Tyr1480His
NM_001165979.2:c.4438T>C NP_001159451.1:p.Tyr1480His
NM_001288989.1:c.5314T>C NP_001275918.1:p.Tyr1772His
NM_016341.3:c.5362T>C NP_057425.3:p.Tyr1788His
XM_006717885.2:c.5404T>C XP_006717948.1:p.Tyr1802His
XM_006717886.2:c.5404T>C XP_006717949.1:p.Tyr1802His
XM_006717888.2:c.5401T>C XP_006717951.1:p.Tyr1801His
XM_006717889.2:c.5356T>C XP_006717952.1:p.Tyr1786His
XM_006717890.1:c.4480T>C XP_006717953.1:p.Tyr1494His
XM_011539849.1:c.5404T>C XP_011538151.1:p.Tyr1802His
XM_011539850.1:c.4249T>C XP_011538152.1:p.Tyr1417His
XM_006717885.4:c.5404T>C XP_006717948.1:p.Tyr1802His
XM_006717888.4:c.5401T>C XP_006717951.1:p.Tyr1801His
XM_006717889.4:c.5356T>C XP_006717952.1:p.Tyr1786His
XM_006717890.3:c.4480T>C XP_006717953.1:p.Tyr1494His
XM_011539849.3:c.5404T>C XP_011538151.1:p.Tyr1802His
XM_011539850.3:c.4249T>C XP_011538152.1:p.Tyr1417His
XM_017016310.2:c.5404T>C XP_016871799.1:p.Tyr1802His
XM_017016311.2:c.5404T>C XP_016871800.1:p.Tyr1802His
XM_017016312.2:c.4390T>C XP_016871801.1:p.Tyr1464His
NM_001288989.2:c.5314T>C NP_001275918.1:p.Tyr1772His
NM_016341.4:c.5362T>C MANE Select NP_057425.3:p.Tyr1788His