Linked Data
ClinVar Variation Id:
3474
dbSNP Id:
rs121907922
gnomAD v4:
11-31789935-T-A
COSMIC:
COSM5739205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31789935T>A , CM000673.2:g.31789935T>A | GRCh38 |
| NC_000011.9:g.31811483T>A , CM000673.1:g.31811483T>A | GRCh37 |
| NC_000011.8:g.31768059T>A | NCBI36 |
| NG_008679.1:g.33027A>T , LRG_720:g.33027A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241001.13:c.1268A>T (PAX6) | ENSP00000241001.8:p.Ter423Leu | |
| ENST00000379107.7:c.1310A>T (PAX6) | ENSP00000368401.2:p.Ter437Leu | |
| ENST00000379109.7:c.1268A>T (PAX6) | ENSP00000368403.2:p.Ter423Leu | |
| ENST00000379129.7:c.1310A>T (PAX6) | ENSP00000368424.2:p.Ter437Leu | |
| ENST00000379132.8:c.1268A>T (PAX6) | ENSP00000368427.2:p.Ter423Leu | |
| ENST00000419022.6:c.1310A>T (PAX6) | ENSP00000404100.1:p.Ter437Leu | |
| ENST00000474783.2:n.4375A>T (PAX6) | ||
| ENST00000481563.6:c.860A>T (PAX6) | ENSP00000492205.1:p.Ter287Leu | |
| ENST00000606377.7:c.1310A>T (PAX6) | ENSP00000480026.1:p.Ter437Leu | |
| ENST00000638629.1:c.860A>T (PAX6) | ENSP00000490971.1:p.Ter287Leu | |
| ENST00000638685.1:c.604A>T (PAX6) | ENSP00000492316.1:p.Lys202Ter | |
| ENST00000638696.1:c.1202A>T (PAX6) | ENSP00000492756.1:p.Ter401Leu | |
| ENST00000638755.1:c.1160A>T (PAX6) | ENSP00000492181.1:p.Ter387Leu | |
| ENST00000638914.3:c.1310A>T (PAX6) | ENSP00000492315.2:p.Ter437Leu | |
| ENST00000638963.1:c.1117A>T (PAX6) | ENSP00000491948.1:p.Lys373Ter | |
| ENST00000638965.1:c.665A>T (PAX6) | ENSP00000492769.1:p.Ter222Leu | |
| ENST00000639386.2:c.860A>T (PAX6) | ENSP00000492658.1:p.Ter287Leu | |
| ENST00000639409.1:c.1310A>T (PAX6) | ENSP00000492476.1:p.Ter437Leu | |
| ENST00000639548.1:c.860A>T (PAX6) | ENSP00000491944.1:p.Ter287Leu | |
| ENST00000639916.1:c.1268A>T (PAX6) | ENSP00000490963.1:p.Ter423Leu | |
| ENST00000640125.1:c.860A>T (PAX6) | ENSP00000492166.1:p.Ter287Leu | |
| ENST00000640368.2:c.1310A>T (PAX6) MANE Select | ENSP00000492024.1:p.Ter437Leu | |
| ENST00000640610.1:c.1268A>T (PAX6) | ENSP00000491295.1:p.Ter423Leu | |
| ENST00000640961.2:c.*6411T>A (ELP4) MANE Select | ENSP00000492152.1:n.*6411T>A | |
| ENST00000640975.1:c.1310A>T (PAX6) | ENSP00000491872.1:p.Ter437Leu | |
| ENST00000643871.1:c.1268A>T (PAX6) | ENSP00000495109.1:p.Ter423Leu | |
| ENST00000241001.12:c.1268A>T (PAX6) | ENSP00000241001.8:p.Ter423Leu | |
| ENST00000379107.6:c.1310A>T (PAX6) | ENSP00000368401.2:p.Ter437Leu | |
| ENST00000379111.6:c.1268A>T (PAX6) | ENSP00000368406.2:p.Ter423Leu | |
| ENST00000379115.8:c.1310A>T (PAX6) | ENSP00000368410.4:p.Ter437Leu | |
| ENST00000379123.9:c.1268A>T (PAX6) | ENSP00000368418.5:p.Ter423Leu | |
| ENST00000379129.6:c.1310A>T (PAX6) | ENSP00000368424.2:p.Ter437Leu | |
| ENST00000379132.7:c.1268A>T (PAX6) | ENSP00000368427.2:p.Ter423Leu | |
| ENST00000419022.5:c.1310A>T (PAX6) | ENSP00000404100.1:p.Ter437Leu | |
| ENST00000464174.5:n.874A>T (PAX6) | ||
| ENST00000474783.1:n.685A>T (PAX6) | ||
| ENST00000606377.5:c.1310A>T (PAX6) | ENSP00000480026.1:p.Ter437Leu | |
| NM_000280.4:c.1268A>T (PAX6) | NP_000271.1:p.Ter423Leu | |
| NM_001127612.1:c.1268A>T (PAX6) | NP_001121084.1:p.Ter423Leu | |
| NM_001258462.1:c.1310A>T (PAX6) | NP_001245391.1:p.Ter437Leu | |
| NM_001258463.1:c.1310A>T (PAX6) | NP_001245392.1:p.Ter437Leu | |
| NM_001258464.1:c.1268A>T (PAX6) | NP_001245393.1:p.Ter423Leu | |
| NM_001258465.1:c.1268A>T (PAX6) | NP_001245394.1:p.Ter423Leu | |
| NM_001310158.1:c.1310A>T (PAX6) | NP_001297087.1:p.Ter437Leu | |
| NM_001310160.1:c.860A>T (PAX6) | NP_001297089.1:p.Ter287Leu | |
| NM_001310161.1:c.860A>T (PAX6) | NP_001297090.1:p.Ter287Leu | |
| NM_001604.5:c.1310A>T (PAX6) | NP_001595.2:p.Ter437Leu | |
| XM_005252954.3:c.1310A>T (PAX6) | XP_005253011.1:p.Ter437Leu | |
| XM_005252955.3:c.1268A>T (PAX6) | XP_005253012.1:p.Ter423Leu | |
| XM_005252956.3:c.1268A>T (PAX6) | XP_005253013.1:p.Ter423Leu | |
| XM_005252958.3:c.860A>T (PAX6) | XP_005253015.1:p.Ter287Leu | |
| XM_006718246.2:c.1067A>T (PAX6) | XP_006718309.1:p.Ter356Leu | |
| XM_011520146.1:c.1514A>T (PAX6) | XP_011518448.1:p.Ter505Leu | |
| XM_011520147.1:c.1472A>T (PAX6) | XP_011518449.1:p.Ter491Leu | |
| XM_011520148.1:c.1313A>T (PAX6) | XP_011518450.1:p.Ter438Leu | |
| XM_011520149.1:c.1310A>T (PAX6) | XP_011518451.1:p.Ter437Leu | |
| XM_011520150.1:c.1310A>T (PAX6) | XP_011518452.1:p.Ter437Leu | |
| XM_011520151.1:c.1271A>T (PAX6) | XP_011518453.1:p.Ter424Leu | |
| XM_011520152.1:c.1109A>T (PAX6) | XP_011518454.1:p.Ter370Leu | |
| XM_011520153.1:c.860A>T (PAX6) | XP_011518455.1:p.Ter287Leu | |
| NM_019040.5:c.*6411T>A (ELP4) MANE Select | NP_061913.3:n.*6411T>A | |
| NM_001127612.2:c.1268A>T (PAX6) | NP_001121084.1:p.Ter423Leu | |
| NM_001258462.2:c.1310A>T (PAX6) | NP_001245391.1:p.Ter437Leu | |
| NM_001258465.2:c.1268A>T (PAX6) | NP_001245394.1:p.Ter423Leu | |
| NM_001288725.2:c.*6397T>A (ELP4) | NP_001275654.1:n.*6397T>A | |
| NM_001288726.2:c.*6506T>A (ELP4) | NP_001275655.1:n.*6506T>A | |
| NM_001310161.2:c.860A>T (PAX6) | NP_001297090.1:p.Ter287Leu | |
| NM_001368887.1:c.1268A>T (PAX6) | NP_001355816.1:p.Ter423Leu | |
| NM_001368888.1:c.1268A>T (PAX6) | NP_001355817.1:p.Ter423Leu | |
| NM_001368889.1:c.1268A>T (PAX6) | NP_001355818.1:p.Ter423Leu | |
| NM_001368890.1:c.1268A>T (PAX6) | NP_001355819.1:p.Ter423Leu | |
| NM_001368891.1:c.1268A>T (PAX6) | NP_001355820.1:p.Ter423Leu | |
| NM_001368892.1:c.1310A>T (PAX6) | NP_001355821.1:p.Ter437Leu | |
| NM_001368893.1:c.1310A>T (PAX6) | NP_001355822.1:p.Ter437Leu | |
| NM_001368894.1:c.1310A>T (PAX6) | NP_001355823.1:p.Ter437Leu | |
| NM_001368899.1:c.860A>T (PAX6) | NP_001355828.1:p.Ter287Leu | |
| NM_001368900.1:c.860A>T (PAX6) | NP_001355829.1:p.Ter287Leu | |
| NM_001368901.1:c.860A>T (PAX6) | NP_001355830.1:p.Ter287Leu | |
| NM_001368902.1:c.860A>T (PAX6) | NP_001355831.1:p.Ter287Leu | |
| NM_001368903.1:c.860A>T (PAX6) | NP_001355832.1:p.Ter287Leu | |
| NM_001368904.1:c.860A>T (PAX6) | NP_001355833.1:p.Ter287Leu | |
| NM_001368905.1:c.860A>T (PAX6) | NP_001355834.1:p.Ter287Leu | |
| NM_001368906.1:c.860A>T (PAX6) | NP_001355835.1:p.Ter287Leu | |
| NM_001368907.1:c.860A>T (PAX6) | NP_001355836.1:p.Ter287Leu | |
| NM_001368908.1:c.860A>T (PAX6) | NP_001355837.1:p.Ter287Leu | |
| NM_001368909.1:c.860A>T (PAX6) | NP_001355838.1:p.Ter287Leu | |
| NM_001368910.1:c.1511A>T (PAX6) | NP_001355839.1:p.Ter504Leu | |
| NM_001368911.1:c.1162A>T (PAX6) | NP_001355840.1:p.Lys388Ter | |
| NM_001368912.1:c.1159A>T (PAX6) | NP_001355841.1:p.Lys387Ter | |
| NM_001368913.1:c.1159A>T (PAX6) | NP_001355842.1:p.Lys387Ter | |
| NM_001368914.1:c.1159A>T (PAX6) | NP_001355843.1:p.Lys387Ter | |
| NM_001368915.1:c.1117A>T (PAX6) | NP_001355844.1:p.Lys373Ter | |
| NM_001368916.1:c.1117A>T (PAX6) | NP_001355845.1:p.Lys373Ter | |
| NM_001368917.1:c.1117A>T (PAX6) | NP_001355846.1:p.Lys373Ter | |
| NM_001368918.1:c.1385A>T (PAX6) | NP_001355847.1:p.Ter462Leu | |
| NM_001368919.1:c.1385A>T (PAX6) | NP_001355848.1:p.Ter462Leu | |
| NM_001368920.1:c.1343A>T (PAX6) | NP_001355849.1:p.Ter448Leu | |
| NM_001368921.1:c.958A>T (PAX6) | NP_001355850.1:p.Lys320Ter | |
| NM_001368922.1:c.1109A>T (PAX6) | NP_001355851.1:p.Ter370Leu | |
| NM_001368923.1:c.1109A>T (PAX6) | NP_001355852.1:p.Ter370Leu | |
| NM_001368924.1:c.1109A>T (PAX6) | NP_001355853.1:p.Ter370Leu | |
| NM_001368925.1:c.1109A>T (PAX6) | NP_001355854.1:p.Ter370Leu | |
| NM_001368926.1:c.1109A>T (PAX6) | NP_001355855.1:p.Ter370Leu | |
| NM_001368927.1:c.1109A>T (PAX6) | NP_001355856.1:p.Ter370Leu | |
| NM_001368928.1:c.1067A>T (PAX6) | NP_001355857.1:p.Ter356Leu | |
| NM_001368929.1:c.709A>T (PAX6) | NP_001355858.1:p.Lys237Ter | |
| NM_001368930.1:c.665A>T (PAX6) | NP_001355859.1:p.Ter222Leu | |
| NR_160916.1:n.1498A>T (PAX6) | ||
| NR_160917.1:n.1654A>T (PAX6) | ||
| NM_000280.5:c.1268A>T (PAX6) | NP_000271.1:p.Ter423Leu | |
| NM_001127612.3:c.1268A>T (PAX6) | NP_001121084.1:p.Ter423Leu | |
| NM_001258462.3:c.1310A>T (PAX6) | NP_001245391.1:p.Ter437Leu | |
| NM_001258463.2:c.1310A>T (PAX6) | NP_001245392.1:p.Ter437Leu | |
| NM_001258464.2:c.1268A>T (PAX6) | NP_001245393.1:p.Ter423Leu | |
| NM_001258465.3:c.1268A>T (PAX6) | NP_001245394.1:p.Ter423Leu | |
| NM_001310158.2:c.1310A>T (PAX6) | NP_001297087.1:p.Ter437Leu | |
| NM_001310160.2:c.860A>T (PAX6) | NP_001297089.1:p.Ter287Leu | |
| NM_001310161.3:c.860A>T (PAX6) | NP_001297090.1:p.Ter287Leu | |
| NM_001368887.2:c.1268A>T (PAX6) | NP_001355816.1:p.Ter423Leu | |
| NM_001368888.2:c.1268A>T (PAX6) | NP_001355817.1:p.Ter423Leu | |
| NM_001368889.2:c.1268A>T (PAX6) | NP_001355818.1:p.Ter423Leu | |
| NM_001368890.2:c.1268A>T (PAX6) | NP_001355819.1:p.Ter423Leu | |
| NM_001368891.2:c.1268A>T (PAX6) | NP_001355820.1:p.Ter423Leu | |
| NM_001368892.2:c.1310A>T (PAX6) | NP_001355821.1:p.Ter437Leu | |
| NM_001368893.2:c.1310A>T (PAX6) | NP_001355822.1:p.Ter437Leu | |
| NM_001368894.2:c.1310A>T (PAX6) MANE Select | NP_001355823.1:p.Ter437Leu | |
| NM_001368899.2:c.860A>T (PAX6) | NP_001355828.1:p.Ter287Leu | |
| NM_001368900.2:c.860A>T (PAX6) | NP_001355829.1:p.Ter287Leu | |
| NM_001368901.2:c.860A>T (PAX6) | NP_001355830.1:p.Ter287Leu | |
| NM_001368902.2:c.860A>T (PAX6) | NP_001355831.1:p.Ter287Leu | |
| NM_001368903.2:c.860A>T (PAX6) | NP_001355832.1:p.Ter287Leu | |
| NM_001368904.2:c.860A>T (PAX6) | NP_001355833.1:p.Ter287Leu | |
| NM_001368905.2:c.860A>T (PAX6) | NP_001355834.1:p.Ter287Leu | |
| NM_001368906.2:c.860A>T (PAX6) | NP_001355835.1:p.Ter287Leu | |
| NM_001368907.2:c.860A>T (PAX6) | NP_001355836.1:p.Ter287Leu | |
| NM_001368908.2:c.860A>T (PAX6) | NP_001355837.1:p.Ter287Leu | |
| NM_001368909.2:c.860A>T (PAX6) | NP_001355838.1:p.Ter287Leu | |
| NM_001368910.2:c.1511A>T (PAX6) | NP_001355839.1:p.Ter504Leu | |
| NM_001368911.2:c.1162A>T (PAX6) | NP_001355840.1:p.Lys388Ter | |
| NM_001368912.2:c.1159A>T (PAX6) | NP_001355841.1:p.Lys387Ter | |
| NM_001368913.2:c.1159A>T (PAX6) | NP_001355842.1:p.Lys387Ter | |
| NM_001368914.2:c.1159A>T (PAX6) | NP_001355843.1:p.Lys387Ter | |
| NM_001368915.2:c.1117A>T (PAX6) | NP_001355844.1:p.Lys373Ter | |
| NM_001368916.2:c.1117A>T (PAX6) | NP_001355845.1:p.Lys373Ter | |
| NM_001368917.2:c.1117A>T (PAX6) | NP_001355846.1:p.Lys373Ter | |
| NM_001368918.2:c.1385A>T (PAX6) | NP_001355847.1:p.Ter462Leu | |
| NM_001368919.2:c.1385A>T (PAX6) | NP_001355848.1:p.Ter462Leu | |
| NM_001368920.2:c.1343A>T (PAX6) | NP_001355849.1:p.Ter448Leu | |
| NM_001368921.2:c.958A>T (PAX6) | NP_001355850.1:p.Lys320Ter | |
| NM_001368922.2:c.1109A>T (PAX6) | NP_001355851.1:p.Ter370Leu | |
| NM_001368923.2:c.1109A>T (PAX6) | NP_001355852.1:p.Ter370Leu | |
| NM_001368924.2:c.1109A>T (PAX6) | NP_001355853.1:p.Ter370Leu | |
| NM_001368925.2:c.1109A>T (PAX6) | NP_001355854.1:p.Ter370Leu | |
| NM_001368926.2:c.1109A>T (PAX6) | NP_001355855.1:p.Ter370Leu | |
| NM_001368927.2:c.1109A>T (PAX6) | NP_001355856.1:p.Ter370Leu | |
| NM_001368928.2:c.1067A>T (PAX6) | NP_001355857.1:p.Ter356Leu | |
| NM_001368929.2:c.709A>T (PAX6) | NP_001355858.1:p.Lys237Ter | |
| NM_001368930.2:c.665A>T (PAX6) | NP_001355859.1:p.Ter222Leu | |
| NM_001604.6:c.1310A>T (PAX6) | NP_001595.2:p.Ter437Leu | |
| NR_160916.2:n.1498A>T (PAX6) | ||
| NR_160917.2:n.1654A>T (PAX6) | ||
| NM_000280.6:c.1268A>T (PAX6) | NP_000271.1:p.Ter423Leu |