Revel Score:
ENST00000261509
0.347
ENST00000335742
0.347
ENST00000505667 (MANE Select)
0.347
ENST00000512127
0.347
ENST00000393726
0.347
ENST00000507735
0.347
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168903800A>G , CM000666.2:g.168903800A>G | GRCh38 |
| NC_000004.11:g.169824951A>G , CM000666.1:g.169824951A>G | GRCh37 |
| NC_000004.10:g.170061526A>G | NCBI36 |
| NG_013376.1:g.411735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704822.1:c.395A>G (PALLD) | ENSP00000516055.1:p.Asp132Gly | |
| ENST00000505667.6:c.2516A>G (PALLD) MANE Select | ENSP00000425556.1:p.Asp839Gly | |
| ENST00000507735.6:c.1004A>G (PALLD) | ENSP00000424016.1:p.Asp335Gly | |
| ENST00000261509.10:c.2465A>G (PALLD) | ENSP00000261509.6:p.Asp822Gly | |
| ENST00000393726.7:c.344A>G (PALLD) | ENSP00000377327.3:p.Asp115Gly | |
| ENST00000505667.5:c.2516A>G (PALLD) | ENSP00000425556.1:p.Asp839Gly | |
| ENST00000507325.5:n.554A>G (PALLD) | ||
| ENST00000507699.1:n.782A>G (PALLD) | ||
| ENST00000507735.5:c.1004A>G (PALLD) | ENSP00000424016.1:p.Asp335Gly | |
| ENST00000509108.1:n.170-9035T>C (CBR4) | ||
| ENST00000510042.5:c.*259-9035T>C (CBR4) | ENSP00000424717.1:n.*259-9035T>C | |
| ENST00000511682.1:n.200A>G (PALLD) | ||
| ENST00000512127.5:c.1319A>G (PALLD) | ENSP00000426947.1:p.Asp440Gly | |
| ENST00000513187.5:n.303A>G (PALLD) | ||
| NM_001166108.1:c.2516A>G (PALLD) | NP_001159580.1:p.Asp839Gly | |
| NM_001166109.1:c.1319A>G (PALLD) | NP_001159581.1:p.Asp440Gly | |
| NM_001166110.1:c.1004A>G (PALLD) | NP_001159582.1:p.Asp335Gly | |
| NM_016081.3:c.2465A>G (PALLD) | NP_057165.3:p.Asp822Gly | |
| XM_005262861.3:c.3188A>G (PALLD) | XP_005262918.1:p.Asp1063Gly | |
| XM_005262866.2:c.2042A>G (PALLD) | XP_005262923.1:p.Asp681Gly | |
| XM_005263315.1:c.536-9035T>C (CBR4) | XP_005263372.1:n.536-9035T>C | |
| XM_011531768.1:c.3392A>G (PALLD) | XP_011530070.1:p.Asp1131Gly | |
| XM_011531769.1:c.3341A>G (PALLD) | XP_011530071.1:p.Asp1114Gly | |
| XM_011531770.1:c.3392A>G (PALLD) | XP_011530072.1:p.Asp1131Gly | |
| XM_011531771.1:c.3119A>G (PALLD) | XP_011530073.1:p.Asp1040Gly | |
| XM_011531772.1:c.3020A>G (PALLD) | XP_011530074.1:p.Asp1007Gly | |
| XM_011531773.1:c.2720A>G (PALLD) | XP_011530075.1:p.Asp907Gly | |
| XM_011531774.1:c.2669A>G (PALLD) | XP_011530076.1:p.Asp890Gly | |
| XM_011531775.1:c.2042A>G (PALLD) | XP_011530077.1:p.Asp681Gly | |
| XM_011531776.1:c.2042A>G (PALLD) | XP_011530078.1:p.Asp681Gly | |
| XR_938789.1:n.902-9035T>C (CBR4) | ||
| XM_005262861.4:c.3188A>G (PALLD) | XP_005262918.1:p.Asp1063Gly | |
| XM_005263315.3:c.536-9035T>C (CBR4) | XP_005263372.1:n.536-9035T>C | |
| XM_011531768.2:c.3392A>G (PALLD) | XP_011530070.1:p.Asp1131Gly | |
| XM_011531769.2:c.3341A>G (PALLD) | XP_011530071.1:p.Asp1114Gly | |
| XM_011531770.2:c.3392A>G (PALLD) | XP_011530072.1:p.Asp1131Gly | |
| XM_011531771.2:c.3119A>G (PALLD) | XP_011530073.1:p.Asp1040Gly | |
| XM_011531772.2:c.3020A>G (PALLD) | XP_011530074.1:p.Asp1007Gly | |
| XM_017007910.1:c.3341A>G (PALLD) | XP_016863399.1:p.Asp1114Gly | |
| XM_017008782.1:c.566-9035T>C (CBR4) | XP_016864271.1:n.566-9035T>C | |
| XM_024453939.1:c.2042A>G (PALLD) | XP_024309707.1:p.Asp681Gly | |
| XM_024453940.1:c.1055A>G (PALLD) | XP_024309708.1:p.Asp352Gly | |
| XR_001741341.1:n.902-8048T>C (CBR4) | ||
| NM_001166108.2:c.2516A>G (PALLD) MANE Select | NP_001159580.1:p.Asp839Gly | |
| NM_001367567.1:c.344A>G (PALLD) | NP_001354496.1:p.Asp115Gly | |
| NM_001367568.1:c.395A>G (PALLD) | NP_001354497.1:p.Asp132Gly | |
| NM_001367569.1:c.344A>G (PALLD) | NP_001354498.1:p.Asp115Gly | |
| NM_001367570.1:c.395A>G (PALLD) | NP_001354499.1:p.Asp132Gly | |
| NM_001166109.2:c.1319A>G (PALLD) | NP_001159581.1:p.Asp440Gly | |
| NM_001166110.2:c.1004A>G (PALLD) | NP_001159582.1:p.Asp335Gly | |
| NM_016081.4:c.2465A>G (PALLD) | NP_057165.3:p.Asp822Gly |