Canonical Allele Identifier: CA115503

Gene: PLCE1

Linked Data

• ClinVar Variation Id: 18424
• ClinVar RCV Id: RCV000002444 ; RCV002514120
• dbSNP Id: rs267606955
• ExAC: 10:96018829 C / T
• gnomAD v2: 10-96018829-C-T
• gnomAD v3: 10-94259072-C-T
• gnomAD v4: 10-94259072-C-T
• COSMIC: COSM4715075 ; COSM4715076 ; COSM4715077 ; COSM4715078
• MyVariant Identifiers: chr10:g.96018829C>T (hg19) ; chr10:g.94259072C>T (hg38)
• PubMed: PMID:20591883

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94259072C>T , CM000672.2:g.94259072C>T	GRCh38
NC_000010.10:g.96018829C>T , CM000672.1:g.96018829C>T	GRCh37
NC_000010.9:g.96008819C>T	NCBI36
NG_015799.1:g.270084C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371375.2:c.2812C>T	ENSP00000360426.1:p.Arg938Ter
ENST00000685253.1:c.*279C>T	ENSP00000509405.1:n.*279C>T
ENST00000685889.1:n.471C>T
ENST00000686954.1:c.3736C>T	ENSP00000508416.1:p.Arg1246Ter
ENST00000688810.1:c.2764C>T	ENSP00000509140.1:p.Arg922Ter
ENST00000689233.1:n.4066C>T
ENST00000692286.1:c.3736C>T	ENSP00000509490.1:p.Arg1246Ter
ENST00000692396.1:c.3688C>T	ENSP00000508605.1:p.Arg1230Ter
ENST00000371380.8:c.3736C>T MANE Select	ENSP00000360431.2:p.Arg1246Ter
ENST00000371385.8:c.2710C>T	ENSP00000360438.4:p.Arg904Ter
ENST00000674738.1:c.2141C>T
ENST00000674827.1:c.1813C>T	ENSP00000502523.1:p.Arg605Ter
ENST00000675218.1:c.2812C>T	ENSP00000501910.1:p.Arg938Ter
ENST00000675487.1:c.3736C>T	ENSP00000502340.1:p.Arg1246Ter
ENST00000675718.1:c.2963C>T
ENST00000676102.1:c.2581C>T	ENSP00000502811.1:p.Arg861Ter
ENST00000260766.7:c.3736C>T	ENSP00000260766.3:p.Arg1246Ter
ENST00000371375.1:c.2812C>T	ENSP00000360426.1:p.Arg938Ter
ENST00000371380.7:c.3736C>T	ENSP00000360431.2:p.Arg1246Ter
ENST00000371385.7:c.2812C>T	ENSP00000360438.3:p.Arg938Ter
NM_001165979.2:c.2812C>T	NP_001159451.1:p.Arg938Ter
NM_001288989.1:c.3688C>T	NP_001275918.1:p.Arg1230Ter
NM_016341.3:c.3736C>T	NP_057425.3:p.Arg1246Ter
XM_006717885.2:c.3736C>T	XP_006717948.1:p.Arg1246Ter
XM_006717886.2:c.3736C>T	XP_006717949.1:p.Arg1246Ter
XM_006717888.2:c.3736C>T	XP_006717951.1:p.Arg1246Ter
XM_006717889.2:c.3688C>T	XP_006717952.1:p.Arg1230Ter
XM_006717890.1:c.2812C>T	XP_006717953.1:p.Arg938Ter
XM_011539849.1:c.3736C>T	XP_011538151.1:p.Arg1246Ter
XM_011539850.1:c.2581C>T	XP_011538152.1:p.Arg861Ter
XM_011539851.1:c.3736C>T	XP_011538153.1:p.Arg1246Ter
XM_011539852.1:c.3736C>T	XP_011538154.1:p.Arg1246Ter
XM_006717885.4:c.3736C>T	XP_006717948.1:p.Arg1246Ter
XM_006717888.4:c.3736C>T	XP_006717951.1:p.Arg1246Ter
XM_006717889.4:c.3688C>T	XP_006717952.1:p.Arg1230Ter
XM_006717890.3:c.2812C>T	XP_006717953.1:p.Arg938Ter
XM_011539849.3:c.3736C>T	XP_011538151.1:p.Arg1246Ter
XM_011539850.3:c.2581C>T	XP_011538152.1:p.Arg861Ter
XM_011539851.3:c.3736C>T	XP_011538153.1:p.Arg1246Ter
XM_011539852.3:c.3736C>T	XP_011538154.1:p.Arg1246Ter
XM_017016310.2:c.3736C>T	XP_016871799.1:p.Arg1246Ter
XM_017016311.2:c.3736C>T	XP_016871800.1:p.Arg1246Ter
XM_017016312.2:c.2764C>T	XP_016871801.1:p.Arg922Ter
NM_001288989.2:c.3688C>T	NP_001275918.1:p.Arg1230Ter
NM_016341.4:c.3736C>T MANE Select	NP_057425.3:p.Arg1246Ter