Linked Data
ClinVar Variation Id:
426425
dbSNP Id:
rs111929795
ExAC:
10:96084122 A / G
gnomAD v2:
10-96084122-A-G
gnomAD v3:
10-94324365-A-G
gnomAD v4:
10-94324365-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94324365A>G , CM000672.2:g.94324365A>G | GRCh38 |
| NC_000010.10:g.96084122A>G , CM000672.1:g.96084122A>G | GRCh37 |
| NC_000010.9:g.96074112A>G | NCBI36 |
| NG_015799.1:g.335377A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.5594A>G (PLCE1) | ENSP00000360426.1:p.Lys1865Arg | |
| ENST00000685253.1:c.*3061A>G (PLCE1) | ENSP00000509405.1:n.*3061A>G | |
| ENST00000685889.1:n.3253A>G (PLCE1) | ||
| ENST00000686807.1:n.1937A>G (PLCE1) | ||
| ENST00000686954.1:c.*1802A>G (PLCE1) | ENSP00000508416.1:n.*1802A>G | |
| ENST00000688810.1:c.5546A>G (PLCE1) | ENSP00000509140.1:p.Lys1849Arg | |
| ENST00000689233.1:n.10726A>G (PLCE1) | ||
| ENST00000690340.1:n.4175-13A>G (PLCE1) | ||
| ENST00000692286.1:c.6386A>G (PLCE1) | ENSP00000509490.1:p.Lys2129Arg | |
| ENST00000692396.1:c.6470A>G (PLCE1) | ENSP00000508605.1:p.Lys2157Arg | |
| ENST00000371380.8:c.6518A>G (PLCE1) MANE Select | ENSP00000360431.2:p.Lys2173Arg | |
| ENST00000371385.8:c.5492A>G (PLCE1) | ENSP00000360438.4:p.Lys1831Arg | |
| ENST00000675218.1:c.5594A>G (PLCE1) | ENSP00000501910.1:p.Lys1865Arg | |
| ENST00000675487.1:c.*2451A>G (PLCE1) | ENSP00000502340.1:n.*2451A>G | |
| ENST00000260766.7:c.6518A>G (PLCE1) | ENSP00000260766.3:p.Lys2173Arg | |
| ENST00000371375.1:c.5594A>G (PLCE1) | ENSP00000360426.1:p.Lys1865Arg | |
| ENST00000371380.7:c.6518A>G (PLCE1) | ENSP00000360431.2:p.Lys2173Arg | |
| ENST00000371385.7:c.5594A>G (PLCE1) | ENSP00000360438.3:p.Lys1865Arg | |
| NM_001165979.2:c.5594A>G (PLCE1) | NP_001159451.1:p.Lys1865Arg | |
| NM_001288989.1:c.6470A>G (PLCE1) | NP_001275918.1:p.Lys2157Arg | |
| NM_016341.3:c.6518A>G (PLCE1) | NP_057425.3:p.Lys2173Arg | |
| XM_006717885.2:c.6560A>G (PLCE1) | XP_006717948.1:p.Lys2187Arg | |
| XM_006717886.2:c.6560A>G (PLCE1) | XP_006717949.1:p.Lys2187Arg | |
| XM_006717888.2:c.6557A>G (PLCE1) | XP_006717951.1:p.Lys2186Arg | |
| XM_006717889.2:c.6512A>G (PLCE1) | XP_006717952.1:p.Lys2171Arg | |
| XM_006717890.1:c.5636A>G (PLCE1) | XP_006717953.1:p.Lys1879Arg | |
| XM_011539849.1:c.6560A>G (PLCE1) | XP_011538151.1:p.Lys2187Arg | |
| XM_011539850.1:c.5405A>G (PLCE1) | XP_011538152.1:p.Lys1802Arg | |
| XR_945799.1:n.3311-8901T>C (NOC3L) | ||
| XM_006717885.4:c.6560A>G (PLCE1) | XP_006717948.1:p.Lys2187Arg | |
| XM_006717888.4:c.6557A>G (PLCE1) | XP_006717951.1:p.Lys2186Arg | |
| XM_006717889.4:c.6512A>G (PLCE1) | XP_006717952.1:p.Lys2171Arg | |
| XM_006717890.3:c.5636A>G (PLCE1) | XP_006717953.1:p.Lys1879Arg | |
| XM_011539849.3:c.6560A>G (PLCE1) | XP_011538151.1:p.Lys2187Arg | |
| XM_011539850.3:c.5405A>G (PLCE1) | XP_011538152.1:p.Lys1802Arg | |
| XM_017016310.2:c.6560A>G (PLCE1) | XP_016871799.1:p.Lys2187Arg | |
| XM_017016311.2:c.6560A>G (PLCE1) | XP_016871800.1:p.Lys2187Arg | |
| XM_017016312.2:c.5546A>G (PLCE1) | XP_016871801.1:p.Lys1849Arg | |
| XR_002957007.1:n.3312-8901T>C (NOC3L) | ||
| NM_001288989.2:c.6470A>G (PLCE1) | NP_001275918.1:p.Lys2157Arg | |
| NM_016341.4:c.6518A>G (PLCE1) MANE Select | NP_057425.3:p.Lys2173Arg |