Canonical Allele Identifier: CA377637301
Gene: PLCE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94032018G>C , CM000672.2:g.94032018G>C GRCh38
NC_000010.10:g.95791775G>C , CM000672.1:g.95791775G>C GRCh37
NC_000010.9:g.95781765G>C NCBI36
NG_015799.1:g.43030G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000685253.1:c.972G>C ENSP00000509405.1:p.Leu324Phe
ENST00000686954.1:c.972G>C ENSP00000508416.1:p.Leu324Phe
ENST00000689233.1:n.1302G>C
ENST00000689699.1:n.1302G>C
ENST00000692286.1:c.972G>C ENSP00000509490.1:p.Leu324Phe
ENST00000692396.1:c.972G>C ENSP00000508605.1:p.Leu324Phe
ENST00000371380.8:c.972G>C MANE Select ENSP00000360431.2:p.Leu324Phe
ENST00000675487.1:c.972G>C ENSP00000502340.1:p.Leu324Phe
ENST00000675718.1:c.43G>C
ENST00000260766.7:c.972G>C ENSP00000260766.3:p.Leu324Phe
ENST00000371380.7:c.972G>C ENSP00000360431.2:p.Leu324Phe
NM_001288989.1:c.972G>C NP_001275918.1:p.Leu324Phe
NM_016341.3:c.972G>C NP_057425.3:p.Leu324Phe
XM_006717885.2:c.972G>C XP_006717948.1:p.Leu324Phe
XM_006717886.2:c.972G>C XP_006717949.1:p.Leu324Phe
XM_006717888.2:c.972G>C XP_006717951.1:p.Leu324Phe
XM_006717889.2:c.972G>C XP_006717952.1:p.Leu324Phe
XM_011539849.1:c.972G>C XP_011538151.1:p.Leu324Phe
XM_011539851.1:c.972G>C XP_011538153.1:p.Leu324Phe
XM_011539852.1:c.972G>C XP_011538154.1:p.Leu324Phe
XM_006717885.4:c.972G>C XP_006717948.1:p.Leu324Phe
XM_006717888.4:c.972G>C XP_006717951.1:p.Leu324Phe
XM_006717889.4:c.972G>C XP_006717952.1:p.Leu324Phe
XM_011539849.3:c.972G>C XP_011538151.1:p.Leu324Phe
XM_011539851.3:c.972G>C XP_011538153.1:p.Leu324Phe
XM_011539852.3:c.972G>C XP_011538154.1:p.Leu324Phe
XM_017016310.2:c.972G>C XP_016871799.1:p.Leu324Phe
XM_017016311.2:c.972G>C XP_016871800.1:p.Leu324Phe
NM_001288989.2:c.972G>C NP_001275918.1:p.Leu324Phe
NM_016341.4:c.972G>C MANE Select NP_057425.3:p.Leu324Phe