Canonical Allele Identifier: CA379958053

Gene: PAX6

Linked Data

• ClinVar Variation Id: 521078
• ClinVar RCV Id: RCV000622960 ; RCV000984413 ; RCV001860432
• dbSNP Id: rs1554985028
• gnomAD v4: 11-31800746-C-T
• MyVariant Identifiers: chr11:g.31822294C>T (hg19) ; chr11:g.31800746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.31800746C>T , CM000673.2:g.31800746C>T	GRCh38
NC_000011.9:g.31822294C>T , CM000673.1:g.31822294C>T	GRCh37
NC_000011.8:g.31778870C>T	NCBI36
NG_008679.1:g.22216G>A , LRG_720:g.22216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241001.13:c.468G>A	ENSP00000241001.8:p.Trp156Ter
ENST00000379107.7:c.510G>A	ENSP00000368401.2:p.Trp170Ter
ENST00000379109.7:c.468G>A	ENSP00000368403.2:p.Trp156Ter
ENST00000379111.7:c.468G>A	ENSP00000368406.3:p.Trp156Ter
ENST00000379115.9:c.309G>A	ENSP00000368410.5:p.Trp103Ter
ENST00000379123.10:c.60G>A	ENSP00000368418.6:p.Trp20Ter
ENST00000379129.7:c.510G>A	ENSP00000368424.2:p.Trp170Ter
ENST00000379132.8:c.468G>A	ENSP00000368427.2:p.Trp156Ter
ENST00000419022.6:c.510G>A	ENSP00000404100.1:p.Trp170Ter
ENST00000423822.7:c.309G>A	ENSP00000388132.3:p.Trp103Ter
ENST00000438681.6:c.309G>A	ENSP00000404356.2:p.Trp103Ter
ENST00000455099.6:c.510G>A	ENSP00000397384.2:p.Trp170Ter
ENST00000470027.7:n.2788G>A
ENST00000471303.6:n.890G>A
ENST00000474783.2:n.998G>A
ENST00000481563.6:c.60G>A	ENSP00000492205.1:p.Trp20Ter
ENST00000494377.7:n.1274G>A
ENST00000524853.6:c.468G>A	ENSP00000431585.2:p.Trp156Ter
ENST00000531910.6:n.1175G>A
ENST00000606377.7:c.510G>A	ENSP00000480026.1:p.Trp170Ter
ENST00000638250.1:c.60G>A	ENSP00000491365.1:p.Trp20Ter
ENST00000638346.1:c.60G>A	ENSP00000491267.1:p.Trp20Ter
ENST00000638629.1:c.60G>A	ENSP00000490971.1:p.Trp20Ter
ENST00000638685.1:c.10+5656G>A	ENSP00000492316.1:n.10+5656G>A
ENST00000638696.1:c.402G>A	ENSP00000492756.1:p.Trp134Ter
ENST00000638755.1:c.360G>A	ENSP00000492181.1:p.Trp120Ter
ENST00000638762.1:c.60G>A	ENSP00000491517.1:p.Trp20Ter
ENST00000638802.1:c.60G>A	ENSP00000492437.1:p.Trp20Ter
ENST00000638853.1:c.60G>A	ENSP00000491280.1:p.Trp20Ter
ENST00000638878.1:c.60G>A	ENSP00000492081.1:p.Trp20Ter
ENST00000638913.1:n.1617G>A
ENST00000638914.3:c.510G>A	ENSP00000492315.2:p.Trp170Ter
ENST00000638963.1:c.468G>A	ENSP00000491948.1:p.Trp156Ter
ENST00000638965.1:c.-80-5958G>A	ENSP00000492769.1:n.-80-5958G>A
ENST00000639006.1:c.60G>A	ENSP00000491210.1:p.Trp20Ter
ENST00000639034.2:c.468G>A	ENSP00000491679.1:p.Trp156Ter
ENST00000639054.1:n.1591G>A
ENST00000639061.1:c.60G>A	ENSP00000491324.1:p.Trp20Ter
ENST00000639079.1:c.60G>A	ENSP00000492129.1:p.Trp20Ter
ENST00000639109.1:c.60G>A	ENSP00000491904.1:p.Trp20Ter
ENST00000639386.2:c.60G>A	ENSP00000492658.1:p.Trp20Ter
ENST00000639394.1:c.*349G>A	ENSP00000492177.1:n.*349G>A
ENST00000639409.1:c.510G>A	ENSP00000492476.1:p.Trp170Ter
ENST00000639548.1:c.60G>A	ENSP00000491944.1:p.Trp20Ter
ENST00000639916.1:c.468G>A	ENSP00000490963.1:p.Trp156Ter
ENST00000639943.1:c.309G>A	ENSP00000491229.1:p.Trp103Ter
ENST00000639950.1:c.468G>A	ENSP00000491862.1:p.Trp156Ter
ENST00000640125.1:c.60G>A	ENSP00000492166.1:p.Trp20Ter
ENST00000640172.1:n.1747G>A
ENST00000640242.1:c.471G>A	ENSP00000492409.1:p.Trp157Ter
ENST00000640287.1:c.468G>A	ENSP00000492822.1:p.Trp156Ter
ENST00000640335.1:c.10+5656G>A	ENSP00000492808.1:n.10+5656G>A
ENST00000640368.2:c.510G>A MANE Select	ENSP00000492024.1:p.Trp170Ter
ENST00000640431.1:c.510G>A	ENSP00000491779.1:p.Trp170Ter
ENST00000640460.1:c.468G>A	ENSP00000492802.1:p.Trp156Ter
ENST00000640610.1:c.468G>A	ENSP00000491295.1:p.Trp156Ter
ENST00000640613.1:c.309G>A	ENSP00000492587.1:p.Trp103Ter
ENST00000640684.1:c.510G>A	ENSP00000491492.1:p.Trp170Ter
ENST00000640735.1:n.543G>A
ENST00000640766.1:c.60G>A	ENSP00000491214.1:p.Trp20Ter
ENST00000640872.1:c.60G>A	ENSP00000491065.1:p.Trp20Ter
ENST00000640963.1:c.510G>A	ENSP00000492397.1:p.Trp170Ter
ENST00000640975.1:c.510G>A	ENSP00000491872.1:p.Trp170Ter
ENST00000643871.1:c.468G>A	ENSP00000495109.1:p.Trp156Ter
ENST00000241001.12:c.468G>A	ENSP00000241001.8:p.Trp156Ter
ENST00000379107.6:c.510G>A	ENSP00000368401.2:p.Trp170Ter
ENST00000379109.6:c.468G>A	ENSP00000368403.2:p.Trp156Ter
ENST00000379111.6:c.468G>A	ENSP00000368406.2:p.Trp156Ter
ENST00000379115.8:c.510G>A	ENSP00000368410.4:p.Trp170Ter
ENST00000379123.9:c.468G>A	ENSP00000368418.5:p.Trp156Ter
ENST00000379129.6:c.510G>A	ENSP00000368424.2:p.Trp170Ter
ENST00000379132.7:c.468G>A	ENSP00000368427.2:p.Trp156Ter
ENST00000419022.5:c.510G>A	ENSP00000404100.1:p.Trp170Ter
ENST00000455099.5:c.309G>A	ENSP00000397384.1:p.Trp103Ter
ENST00000464174.5:n.130-5958G>A
ENST00000470027.6:n.2043G>A
ENST00000471303.5:n.551G>A
ENST00000481563.5:n.574G>A
ENST00000494377.6:n.1661G>A
ENST00000531910.5:n.217G>A
ENST00000533333.5:n.5374G>A
ENST00000606377.5:c.510G>A	ENSP00000480026.1:p.Trp170Ter
NM_000280.4:c.468G>A	NP_000271.1:p.Trp156Ter
NM_001127612.1:c.468G>A	NP_001121084.1:p.Trp156Ter
NM_001258462.1:c.510G>A	NP_001245391.1:p.Trp170Ter
NM_001258463.1:c.510G>A	NP_001245392.1:p.Trp170Ter
NM_001258464.1:c.468G>A	NP_001245393.1:p.Trp156Ter
NM_001258465.1:c.468G>A	NP_001245394.1:p.Trp156Ter
NM_001310158.1:c.510G>A	NP_001297087.1:p.Trp170Ter
NM_001310159.1:c.468G>A	NP_001297088.1:p.Trp156Ter
NM_001310160.1:c.60G>A	NP_001297089.1:p.Trp20Ter
NM_001310161.1:c.60G>A	NP_001297090.1:p.Trp20Ter
NM_001604.5:c.510G>A	NP_001595.2:p.Trp170Ter
XM_005252954.3:c.510G>A	XP_005253011.1:p.Trp170Ter
XM_005252955.3:c.468G>A	XP_005253012.1:p.Trp156Ter
XM_005252956.3:c.468G>A	XP_005253013.1:p.Trp156Ter
XM_005252958.3:c.60G>A	XP_005253015.1:p.Trp20Ter
XM_006718246.2:c.267G>A	XP_006718309.1:p.Trp89Ter
XM_011520146.1:c.714G>A	XP_011518448.1:p.Trp238Ter
XM_011520147.1:c.672G>A	XP_011518449.1:p.Trp224Ter
XM_011520148.1:c.513G>A	XP_011518450.1:p.Trp171Ter
XM_011520149.1:c.510G>A	XP_011518451.1:p.Trp170Ter
XM_011520150.1:c.510G>A	XP_011518452.1:p.Trp170Ter
XM_011520151.1:c.471G>A	XP_011518453.1:p.Trp157Ter
XM_011520152.1:c.309G>A	XP_011518454.1:p.Trp103Ter
XM_011520153.1:c.60G>A	XP_011518455.1:p.Trp20Ter
NM_001127612.2:c.468G>A	NP_001121084.1:p.Trp156Ter
NM_001258462.2:c.510G>A	NP_001245391.1:p.Trp170Ter
NM_001258465.2:c.468G>A	NP_001245394.1:p.Trp156Ter
NM_001310161.2:c.60G>A	NP_001297090.1:p.Trp20Ter
NM_001368887.1:c.468G>A	NP_001355816.1:p.Trp156Ter
NM_001368888.1:c.468G>A	NP_001355817.1:p.Trp156Ter
NM_001368889.1:c.468G>A	NP_001355818.1:p.Trp156Ter
NM_001368890.1:c.468G>A	NP_001355819.1:p.Trp156Ter
NM_001368891.1:c.468G>A	NP_001355820.1:p.Trp156Ter
NM_001368892.1:c.510G>A	NP_001355821.1:p.Trp170Ter
NM_001368893.1:c.510G>A	NP_001355822.1:p.Trp170Ter
NM_001368894.1:c.510G>A	NP_001355823.1:p.Trp170Ter
NM_001368899.1:c.60G>A	NP_001355828.1:p.Trp20Ter
NM_001368900.1:c.60G>A	NP_001355829.1:p.Trp20Ter
NM_001368901.1:c.60G>A	NP_001355830.1:p.Trp20Ter
NM_001368902.1:c.60G>A	NP_001355831.1:p.Trp20Ter
NM_001368903.1:c.60G>A	NP_001355832.1:p.Trp20Ter
NM_001368904.1:c.60G>A	NP_001355833.1:p.Trp20Ter
NM_001368905.1:c.60G>A	NP_001355834.1:p.Trp20Ter
NM_001368906.1:c.60G>A	NP_001355835.1:p.Trp20Ter
NM_001368907.1:c.60G>A	NP_001355836.1:p.Trp20Ter
NM_001368908.1:c.60G>A	NP_001355837.1:p.Trp20Ter
NM_001368909.1:c.60G>A	NP_001355838.1:p.Trp20Ter
NM_001368910.1:c.711G>A	NP_001355839.1:p.Trp237Ter
NM_001368911.1:c.513G>A	NP_001355840.1:p.Trp171Ter
NM_001368912.1:c.510G>A	NP_001355841.1:p.Trp170Ter
NM_001368913.1:c.510G>A	NP_001355842.1:p.Trp170Ter
NM_001368914.1:c.510G>A	NP_001355843.1:p.Trp170Ter
NM_001368915.1:c.468G>A	NP_001355844.1:p.Trp156Ter
NM_001368916.1:c.468G>A	NP_001355845.1:p.Trp156Ter
NM_001368917.1:c.468G>A	NP_001355846.1:p.Trp156Ter
NM_001368918.1:c.585G>A	NP_001355847.1:p.Trp195Ter
NM_001368919.1:c.585G>A	NP_001355848.1:p.Trp195Ter
NM_001368920.1:c.543G>A	NP_001355849.1:p.Trp181Ter
NM_001368921.1:c.309G>A	NP_001355850.1:p.Trp103Ter
NM_001368922.1:c.309G>A	NP_001355851.1:p.Trp103Ter
NM_001368923.1:c.309G>A	NP_001355852.1:p.Trp103Ter
NM_001368924.1:c.309G>A	NP_001355853.1:p.Trp103Ter
NM_001368925.1:c.309G>A	NP_001355854.1:p.Trp103Ter
NM_001368926.1:c.309G>A	NP_001355855.1:p.Trp103Ter
NM_001368927.1:c.309G>A	NP_001355856.1:p.Trp103Ter
NM_001368928.1:c.267G>A	NP_001355857.1:p.Trp89Ter
NM_001368929.1:c.60G>A	NP_001355858.1:p.Trp20Ter
NR_160916.1:n.932G>A
NR_160917.1:n.937G>A
NM_000280.5:c.468G>A	NP_000271.1:p.Trp156Ter
NM_001127612.3:c.468G>A	NP_001121084.1:p.Trp156Ter
NM_001258462.3:c.510G>A	NP_001245391.1:p.Trp170Ter
NM_001258463.2:c.510G>A	NP_001245392.1:p.Trp170Ter
NM_001258464.2:c.468G>A	NP_001245393.1:p.Trp156Ter
NM_001258465.3:c.468G>A	NP_001245394.1:p.Trp156Ter
NM_001310158.2:c.510G>A	NP_001297087.1:p.Trp170Ter
NM_001310160.2:c.60G>A	NP_001297089.1:p.Trp20Ter
NM_001310161.3:c.60G>A	NP_001297090.1:p.Trp20Ter
NM_001368887.2:c.468G>A	NP_001355816.1:p.Trp156Ter
NM_001368888.2:c.468G>A	NP_001355817.1:p.Trp156Ter
NM_001368889.2:c.468G>A	NP_001355818.1:p.Trp156Ter
NM_001368890.2:c.468G>A	NP_001355819.1:p.Trp156Ter
NM_001368891.2:c.468G>A	NP_001355820.1:p.Trp156Ter
NM_001368892.2:c.510G>A	NP_001355821.1:p.Trp170Ter
NM_001368893.2:c.510G>A	NP_001355822.1:p.Trp170Ter
NM_001368894.2:c.510G>A MANE Select	NP_001355823.1:p.Trp170Ter
NM_001368899.2:c.60G>A	NP_001355828.1:p.Trp20Ter
NM_001368900.2:c.60G>A	NP_001355829.1:p.Trp20Ter
NM_001368901.2:c.60G>A	NP_001355830.1:p.Trp20Ter
NM_001368902.2:c.60G>A	NP_001355831.1:p.Trp20Ter
NM_001368903.2:c.60G>A	NP_001355832.1:p.Trp20Ter
NM_001368904.2:c.60G>A	NP_001355833.1:p.Trp20Ter
NM_001368905.2:c.60G>A	NP_001355834.1:p.Trp20Ter
NM_001368906.2:c.60G>A	NP_001355835.1:p.Trp20Ter
NM_001368907.2:c.60G>A	NP_001355836.1:p.Trp20Ter
NM_001368908.2:c.60G>A	NP_001355837.1:p.Trp20Ter
NM_001368909.2:c.60G>A	NP_001355838.1:p.Trp20Ter
NM_001368910.2:c.711G>A	NP_001355839.1:p.Trp237Ter
NM_001368911.2:c.513G>A	NP_001355840.1:p.Trp171Ter
NM_001368912.2:c.510G>A	NP_001355841.1:p.Trp170Ter
NM_001368913.2:c.510G>A	NP_001355842.1:p.Trp170Ter
NM_001368914.2:c.510G>A	NP_001355843.1:p.Trp170Ter
NM_001368915.2:c.468G>A	NP_001355844.1:p.Trp156Ter
NM_001368916.2:c.468G>A	NP_001355845.1:p.Trp156Ter
NM_001368917.2:c.468G>A	NP_001355846.1:p.Trp156Ter
NM_001368918.2:c.585G>A	NP_001355847.1:p.Trp195Ter
NM_001368919.2:c.585G>A	NP_001355848.1:p.Trp195Ter
NM_001368920.2:c.543G>A	NP_001355849.1:p.Trp181Ter
NM_001368921.2:c.309G>A	NP_001355850.1:p.Trp103Ter
NM_001368922.2:c.309G>A	NP_001355851.1:p.Trp103Ter
NM_001368923.2:c.309G>A	NP_001355852.1:p.Trp103Ter
NM_001368924.2:c.309G>A	NP_001355853.1:p.Trp103Ter
NM_001368925.2:c.309G>A	NP_001355854.1:p.Trp103Ter
NM_001368926.2:c.309G>A	NP_001355855.1:p.Trp103Ter
NM_001368927.2:c.309G>A	NP_001355856.1:p.Trp103Ter
NM_001368928.2:c.267G>A	NP_001355857.1:p.Trp89Ter
NM_001368929.2:c.60G>A	NP_001355858.1:p.Trp20Ter
NM_001604.6:c.510G>A	NP_001595.2:p.Trp170Ter
NR_160916.2:n.932G>A
NR_160917.2:n.937G>A
NM_000280.6:c.468G>A	NP_000271.1:p.Trp156Ter