Revel Score:
ENST00000261509
0.350
ENST00000335742
0.350
ENST00000505667 (MANE Select)
0.350
ENST00000512127
0.350
ENST00000507735
0.350
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014385 (AFR)
Genomes Max Group AF
0.00009571 (AFR)
Exomes Max Group AF
0.00013987 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168915926G>A , CM000666.2:g.168915926G>A | GRCh38 |
| NC_000004.11:g.169837077G>A , CM000666.1:g.169837077G>A | GRCh37 |
| NC_000004.10:g.170073652G>A | NCBI36 |
| NG_013376.1:g.423861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704822.1:c.628G>A (PALLD) | ENSP00000516055.1:p.Glu210Lys | |
| ENST00000505667.6:c.2749G>A (PALLD) MANE Select | ENSP00000425556.1:p.Glu917Lys | |
| ENST00000507735.6:c.1237G>A (PALLD) | ENSP00000424016.1:p.Glu413Lys | |
| ENST00000261509.10:c.2698G>A (PALLD) | ENSP00000261509.6:p.Glu900Lys | |
| ENST00000505667.5:c.2749G>A (PALLD) | ENSP00000425556.1:p.Glu917Lys | |
| ENST00000507699.1:n.1015G>A (PALLD) | ||
| ENST00000507735.5:c.1237G>A (PALLD) | ENSP00000424016.1:p.Glu413Lys | |
| ENST00000509108.1:n.170-21161C>T (CBR4) | ||
| ENST00000510042.5:c.*259-21161C>T (CBR4) | ENSP00000424717.1:n.*259-21161C>T | |
| ENST00000512127.5:c.1552G>A (PALLD) | ENSP00000426947.1:p.Glu518Lys | |
| NM_001166108.1:c.2749G>A (PALLD) | NP_001159580.1:p.Glu917Lys | |
| NM_001166109.1:c.1552G>A (PALLD) | NP_001159581.1:p.Glu518Lys | |
| NM_001166110.1:c.1237G>A (PALLD) | NP_001159582.1:p.Glu413Lys | |
| NM_016081.3:c.2698G>A (PALLD) | NP_057165.3:p.Glu900Lys | |
| XM_005262861.3:c.3421G>A (PALLD) | XP_005262918.1:p.Glu1141Lys | |
| XM_005262866.2:c.2275G>A (PALLD) | XP_005262923.1:p.Glu759Lys | |
| XM_005263315.1:c.536-21161C>T (CBR4) | XP_005263372.1:n.536-21161C>T | |
| XM_011531768.1:c.3625G>A (PALLD) | XP_011530070.1:p.Glu1209Lys | |
| XM_011531769.1:c.3574G>A (PALLD) | XP_011530071.1:p.Glu1192Lys | |
| XM_011531770.1:c.3625G>A (PALLD) | XP_011530072.1:p.Glu1209Lys | |
| XM_011531771.1:c.3352G>A (PALLD) | XP_011530073.1:p.Glu1118Lys | |
| XM_011531772.1:c.3253G>A (PALLD) | XP_011530074.1:p.Glu1085Lys | |
| XM_011531773.1:c.2953G>A (PALLD) | XP_011530075.1:p.Glu985Lys | |
| XM_011531774.1:c.2902G>A (PALLD) | XP_011530076.1:p.Glu968Lys | |
| XM_011531775.1:c.2275G>A (PALLD) | XP_011530077.1:p.Glu759Lys | |
| XM_011531776.1:c.2275G>A (PALLD) | XP_011530078.1:p.Glu759Lys | |
| XR_938789.1:n.901+12611C>T (CBR4) | ||
| XM_005262861.4:c.3421G>A (PALLD) | XP_005262918.1:p.Glu1141Lys | |
| XM_005263315.3:c.536-21161C>T (CBR4) | XP_005263372.1:n.536-21161C>T | |
| XM_011531768.2:c.3625G>A (PALLD) | XP_011530070.1:p.Glu1209Lys | |
| XM_011531769.2:c.3574G>A (PALLD) | XP_011530071.1:p.Glu1192Lys | |
| XM_011531770.2:c.3625G>A (PALLD) | XP_011530072.1:p.Glu1209Lys | |
| XM_011531771.2:c.3352G>A (PALLD) | XP_011530073.1:p.Glu1118Lys | |
| XM_011531772.2:c.3253G>A (PALLD) | XP_011530074.1:p.Glu1085Lys | |
| XM_017007910.1:c.3574G>A (PALLD) | XP_016863399.1:p.Glu1192Lys | |
| XM_017008782.1:c.566-21161C>T (CBR4) | XP_016864271.1:n.566-21161C>T | |
| XM_024453939.1:c.2275G>A (PALLD) | XP_024309707.1:p.Glu759Lys | |
| XM_024453940.1:c.1288G>A (PALLD) | XP_024309708.1:p.Glu430Lys | |
| XR_001741341.1:n.901+12611C>T (CBR4) | ||
| NM_001166108.2:c.2749G>A (PALLD) MANE Select | NP_001159580.1:p.Glu917Lys | |
| NM_001367567.1:c.577G>A (PALLD) | NP_001354496.1:p.Glu193Lys | |
| NM_001367568.1:c.628G>A (PALLD) | NP_001354497.1:p.Glu210Lys | |
| NM_001367569.1:c.577G>A (PALLD) | NP_001354498.1:p.Glu193Lys | |
| NM_001367570.1:c.628G>A (PALLD) | NP_001354499.1:p.Glu210Lys | |
| NM_001166109.2:c.1552G>A (PALLD) | NP_001159581.1:p.Glu518Lys | |
| NM_001166110.2:c.1237G>A (PALLD) | NP_001159582.1:p.Glu413Lys | |
| NM_016081.4:c.2698G>A (PALLD) | NP_057165.3:p.Glu900Lys |