Canonical Allele Identifier: CA1928977007
Community Standard Title: NM_016341.4(PLCE1):c.3736C= (p.Arg1246=)
Gene: PLCE1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_016341.4:c.3736C= MANE Select NP_057425.3:p.Arg1246=
ENST00000371380.8:c.3736C= MANE Select ENSP00000360431.2:p.Arg1246=
NM_001165979.2:c.2812C= NP_001159451.1:p.Arg938=
NM_001288989.1:c.3688C= NP_001275918.1:p.Arg1230=
NM_001288989.2:c.3688C= NP_001275918.1:p.Arg1230=
NM_016341.3:c.3736C= NP_057425.3:p.Arg1246=
ENST00000260766.7:c.3736C= ENSP00000260766.3:p.Arg1246=
ENST00000371375.1:c.2812C= ENSP00000360426.1:p.Arg938=
ENST00000371375.2:c.2812C= ENSP00000360426.1:p.Arg938=
ENST00000371380.7:c.3736C= ENSP00000360431.2:p.Arg1246=
ENST00000371385.7:c.2812C= ENSP00000360438.3:p.Arg938=
ENST00000371385.8:c.2710C= ENSP00000360438.4:p.Arg904=
ENST00000674738.1:c.2141C=
ENST00000674827.1:c.1813C= ENSP00000502523.1:p.Arg605=
ENST00000675218.1:c.2812C= ENSP00000501910.1:p.Arg938=
ENST00000675487.1:c.3736C= ENSP00000502340.1:p.Arg1246=
ENST00000675718.1:c.2963C=
ENST00000676102.1:c.2581C= ENSP00000502811.1:p.Arg861=
ENST00000685253.1:c.*279C= ENSP00000509405.1:n.*279C=
ENST00000685889.1:n.471C=
ENST00000686954.1:c.3736C= ENSP00000508416.1:p.Arg1246=
ENST00000688810.1:c.2764C= ENSP00000509140.1:p.Arg922=
ENST00000689233.1:n.4066C=
ENST00000692286.1:c.3736C= ENSP00000509490.1:p.Arg1246=
ENST00000692396.1:c.3688C= ENSP00000508605.1:p.Arg1230=
XM_006717885.2:c.3736C= XP_006717948.1:p.Arg1246=
XM_006717885.4:c.3736C= XP_006717948.1:p.Arg1246=
XM_006717886.2:c.3736C= XP_006717949.1:p.Arg1246=
XM_006717888.2:c.3736C= XP_006717951.1:p.Arg1246=
XM_006717888.4:c.3736C= XP_006717951.1:p.Arg1246=
XM_006717889.2:c.3688C= XP_006717952.1:p.Arg1230=
XM_006717889.4:c.3688C= XP_006717952.1:p.Arg1230=
XM_006717890.1:c.2812C= XP_006717953.1:p.Arg938=
XM_006717890.3:c.2812C= XP_006717953.1:p.Arg938=
XM_011539849.1:c.3736C= XP_011538151.1:p.Arg1246=
XM_011539849.3:c.3736C= XP_011538151.1:p.Arg1246=
XM_011539850.1:c.2581C= XP_011538152.1:p.Arg861=
XM_011539850.3:c.2581C= XP_011538152.1:p.Arg861=
XM_011539851.1:c.3736C= XP_011538153.1:p.Arg1246=
XM_011539851.3:c.3736C= XP_011538153.1:p.Arg1246=
XM_011539852.1:c.3736C= XP_011538154.1:p.Arg1246=
XM_011539852.3:c.3736C= XP_011538154.1:p.Arg1246=
XM_017016310.2:c.3736C= XP_016871799.1:p.Arg1246=
XM_017016311.2:c.3736C= XP_016871800.1:p.Arg1246=
XM_017016312.2:c.2764C= XP_016871801.1:p.Arg922=