Linked Data
dbSNP Id:
rs568921619
ExAC:
10:96081778 G / C
gnomAD v2:
10-96081778-G-C
gnomAD v4:
10-94322021-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94322021G>C , CM000672.2:g.94322021G>C | GRCh38 |
| NC_000010.10:g.96081778G>C , CM000672.1:g.96081778G>C | GRCh37 |
| NC_000010.9:g.96071768G>C | NCBI36 |
| NG_015799.1:g.333033G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.5539G>C (PLCE1) | ENSP00000360426.1:p.Ala1847Pro | |
| ENST00000685132.1:n.3862G>C (PLCE1) | ||
| ENST00000685253.1:c.*3006G>C (PLCE1) | ENSP00000509405.1:n.*3006G>C | |
| ENST00000685889.1:n.3198G>C (PLCE1) | ||
| ENST00000686807.1:n.1882G>C (PLCE1) | ||
| ENST00000686954.1:c.*1747G>C (PLCE1) | ENSP00000508416.1:n.*1747G>C | |
| ENST00000688810.1:c.5491G>C (PLCE1) | ENSP00000509140.1:p.Ala1831Pro | |
| ENST00000689233.1:n.10671G>C (PLCE1) | ||
| ENST00000690340.1:n.4136G>C (PLCE1) | ||
| ENST00000692286.1:c.6331G>C (PLCE1) | ENSP00000509490.1:p.Ala2111Pro | |
| ENST00000692396.1:c.6415G>C (PLCE1) | ENSP00000508605.1:p.Ala2139Pro | |
| ENST00000371380.8:c.6463G>C (PLCE1) MANE Select | ENSP00000360431.2:p.Ala2155Pro | |
| ENST00000371385.8:c.5437G>C (PLCE1) | ENSP00000360438.4:p.Ala1813Pro | |
| ENST00000674738.1:c.5018G>C (PLCE1) | ||
| ENST00000674827.1:c.4579G>C (PLCE1) | ENSP00000502523.1:p.Ala1527Pro | |
| ENST00000675218.1:c.5539G>C (PLCE1) | ENSP00000501910.1:p.Ala1847Pro | |
| ENST00000675487.1:c.*2396G>C (PLCE1) | ENSP00000502340.1:n.*2396G>C | |
| ENST00000675718.1:c.5732G>C (PLCE1) | ||
| ENST00000260766.7:c.6463G>C (PLCE1) | ENSP00000260766.3:p.Ala2155Pro | |
| ENST00000371375.1:c.5539G>C (PLCE1) | ENSP00000360426.1:p.Ala1847Pro | |
| ENST00000371380.7:c.6463G>C (PLCE1) | ENSP00000360431.2:p.Ala2155Pro | |
| ENST00000371385.7:c.5539G>C (PLCE1) | ENSP00000360438.3:p.Ala1847Pro | |
| NM_001165979.2:c.5539G>C (PLCE1) | NP_001159451.1:p.Ala1847Pro | |
| NM_001288989.1:c.6415G>C (PLCE1) | NP_001275918.1:p.Ala2139Pro | |
| NM_016341.3:c.6463G>C (PLCE1) | NP_057425.3:p.Ala2155Pro | |
| XM_006717885.2:c.6505G>C (PLCE1) | XP_006717948.1:p.Ala2169Pro | |
| XM_006717886.2:c.6505G>C (PLCE1) | XP_006717949.1:p.Ala2169Pro | |
| XM_006717888.2:c.6502G>C (PLCE1) | XP_006717951.1:p.Ala2168Pro | |
| XM_006717889.2:c.6457G>C (PLCE1) | XP_006717952.1:p.Ala2153Pro | |
| XM_006717890.1:c.5581G>C (PLCE1) | XP_006717953.1:p.Ala1861Pro | |
| XM_011539849.1:c.6505G>C (PLCE1) | XP_011538151.1:p.Ala2169Pro | |
| XM_011539850.1:c.5350G>C (PLCE1) | XP_011538152.1:p.Ala1784Pro | |
| XR_945799.1:n.3311-6557C>G (NOC3L) | ||
| XM_006717885.4:c.6505G>C (PLCE1) | XP_006717948.1:p.Ala2169Pro | |
| XM_006717888.4:c.6502G>C (PLCE1) | XP_006717951.1:p.Ala2168Pro | |
| XM_006717889.4:c.6457G>C (PLCE1) | XP_006717952.1:p.Ala2153Pro | |
| XM_006717890.3:c.5581G>C (PLCE1) | XP_006717953.1:p.Ala1861Pro | |
| XM_011539849.3:c.6505G>C (PLCE1) | XP_011538151.1:p.Ala2169Pro | |
| XM_011539850.3:c.5350G>C (PLCE1) | XP_011538152.1:p.Ala1784Pro | |
| XM_017016310.2:c.6505G>C (PLCE1) | XP_016871799.1:p.Ala2169Pro | |
| XM_017016311.2:c.6505G>C (PLCE1) | XP_016871800.1:p.Ala2169Pro | |
| XM_017016312.2:c.5491G>C (PLCE1) | XP_016871801.1:p.Ala1831Pro | |
| XR_002957007.1:n.3312-6557C>G (NOC3L) | ||
| NM_001288989.2:c.6415G>C (PLCE1) | NP_001275918.1:p.Ala2139Pro | |
| NM_016341.4:c.6463G>C (PLCE1) MANE Select | NP_057425.3:p.Ala2155Pro |