Linked Data
ClinVar Variation Id:
720286
dbSNP Id:
rs72999042
ExAC:
1:155658015 G / A
gnomAD v2:
1-155658015-G-A
gnomAD v3:
1-155688224-G-A
gnomAD v4:
1-155688224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155688224G>A , CM000663.2:g.155688224G>A | GRCh38 |
| NC_000001.10:g.155658015G>A , CM000663.1:g.155658015G>A | GRCh37 |
| NC_000001.9:g.153924639G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355499.9:c.-151-23C>T (YY1AP1) MANE Select | ENSP00000347686.4:n.-151-23C>T | |
| ENST00000295566.8:c.48-23C>T (YY1AP1) | ENSP00000295566.4:n.48-23C>T | |
| ENST00000311573.9:c.-241C>T (YY1AP1) | ENSP00000311138.5:n.-241C>T | |
| ENST00000347088.9:c.-21+435C>T (YY1AP1) | ENSP00000316079.6:n.-21+435C>T | |
| ENST00000354691.9:c.-151-23C>T (YY1AP1) | ENSP00000346722.5:n.-151-23C>T | |
| ENST00000355499.8:c.-151-23C>T (YY1AP1) | ENSP00000347686.4:n.-151-23C>T | |
| ENST00000359205.9:c.-143-23C>T (YY1AP1) | ENSP00000352134.5:n.-143-23C>T | |
| ENST00000361140.8:c.-151-23C>T (YY1AP1) | ENSP00000354716.4:n.-151-23C>T | |
| ENST00000361831.9:c.-265-23C>T (YY1AP1) | ENSP00000355298.5:n.-265-23C>T | |
| ENST00000368330.6:c.-21+706C>T (YY1AP1) | ENSP00000357314.2:n.-21+706C>T | |
| ENST00000368339.9:c.241C>T (YY1AP1) | ENSP00000357323.5:p.Leu81Phe | |
| ENST00000368340.9:c.241C>T (YY1AP1) | ENSP00000357324.5:p.Leu81Phe | |
| ENST00000404643.5:c.-151-23C>T (YY1AP1) | ENSP00000385390.1:n.-151-23C>T | |
| ENST00000405763.7:c.241C>T (YY1AP1) | ENSP00000384583.3:p.Leu81Phe | |
| ENST00000407221.5:c.-218-23C>T (YY1AP1) | ENSP00000385791.1:n.-218-23C>T | |
| ENST00000436865.5:c.-21+706C>T (YY1AP1) | ENSP00000390116.1:n.-21+706C>T | |
| ENST00000443231.5:c.-265-23C>T (YY1AP1) | ENSP00000409203.1:n.-265-23C>T | |
| ENST00000454523.5:c.-151-23C>T (YY1AP1) | ENSP00000413240.1:n.-151-23C>T | |
| ENST00000461479.1:n.233+32G>A (DAP3) | ||
| ENST00000471214.5:c.-181+32G>A (DAP3) | ENSP00000476899.1:n.-181+32G>A | |
| ENST00000471642.6:c.-88+32G>A (DAP3) | ENSP00000476592.1:n.-88+32G>A | |
| ENST00000476027.5:n.60-23C>T (YY1AP1) | ||
| ENST00000476093.5:n.46+706C>T (YY1AP1) | ||
| ENST00000479076.1:n.202+32G>A (DAP3) | ||
| NM_001198900.1:c.-143-23C>T (YY1AP1) | NP_001185829.1:n.-143-23C>T | |
| NM_001198901.1:c.-21+706C>T (YY1AP1) | NP_001185830.1:n.-21+706C>T | |
| NM_001198902.1:c.-21+435C>T (YY1AP1) | NP_001185831.1:n.-21+435C>T | |
| NM_001198903.1:c.241C>T (YY1AP1) | NP_001185832.1:p.Leu81Phe | |
| NM_001198904.1:c.241C>T (YY1AP1) | NP_001185833.1:p.Leu81Phe | |
| NM_001198905.1:c.-151-23C>T (YY1AP1) | NP_001185834.1:n.-151-23C>T | |
| NM_001198906.1:c.48-23C>T (YY1AP1) | NP_001185835.1:n.48-23C>T | |
| NM_018253.3:c.-265-23C>T (YY1AP1) | NP_060723.2:n.-265-23C>T | |
| NM_139118.2:c.48-23C>T (YY1AP1) | NP_620829.1:n.48-23C>T | |
| NM_139119.2:c.-151-23C>T (YY1AP1) | NP_620830.1:n.-151-23C>T | |
| NM_139121.2:c.-375+706C>T (YY1AP1) | NP_620832.1:n.-375+706C>T | |
| XM_011509721.1:c.48-23C>T (YY1AP1) | XP_011508023.1:n.48-23C>T | |
| XM_011509722.1:c.-143-23C>T (YY1AP1) | XP_011508024.1:n.-143-23C>T | |
| XM_017002291.1:c.-88+32G>A (DAP3) | XP_016857780.1:n.-88+32G>A | |
| XM_017002292.1:c.-88+32G>A (DAP3) | XP_016857781.1:n.-88+32G>A | |
| XM_017002294.1:c.-88+32G>A (DAP3) | XP_016857783.1:n.-88+32G>A | |
| XM_017002295.1:c.-88+32G>A (DAP3) | XP_016857784.1:n.-88+32G>A | |
| XM_024449697.1:c.-88+32G>A (DAP3) | XP_024305465.1:n.-88+32G>A | |
| XM_024449698.1:c.-88+32G>A (DAP3) | XP_024305466.1:n.-88+32G>A | |
| XM_024449700.1:c.-157+32G>A (DAP3) | XP_024305468.1:n.-157+32G>A | |
| NM_001198906.2:c.48-23C>T (YY1AP1) | NP_001185835.1:n.48-23C>T | |
| NM_001198900.2:c.-143-23C>T (YY1AP1) | NP_001185829.1:n.-143-23C>T | |
| NM_001198901.2:c.-21+706C>T (YY1AP1) | NP_001185830.1:n.-21+706C>T | |
| NM_001198902.2:c.-21+435C>T (YY1AP1) | NP_001185831.1:n.-21+435C>T | |
| NM_001198905.2:c.-151-23C>T (YY1AP1) | NP_001185834.1:n.-151-23C>T | |
| NM_018253.4:c.-265-23C>T (YY1AP1) | NP_060723.2:n.-265-23C>T | |
| NM_139118.3:c.48-23C>T (YY1AP1) | NP_620829.1:n.48-23C>T | |
| NM_139119.3:c.-151-23C>T (YY1AP1) MANE Select | NP_620830.1:n.-151-23C>T | |
| NM_139121.3:c.-375+706C>T (YY1AP1) | NP_620832.1:n.-375+706C>T |