Canonical Allele Identifier: CA379960126

Gene: PAX6

Linked Data

• ClinVar Variation Id: 430972
• ClinVar RCV Id: RCV000496060 ; RCV000635401
• dbSNP Id: rs1131692284
• MyVariant Identifiers: chr11:g.31827959T>G (hg19) ; chr11:g.31806411T>G (hg38)
• PubMed: PMID:28321846

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.31806411T>G , CM000673.2:g.31806411T>G	GRCh38
NC_000011.9:g.31827959T>G , CM000673.1:g.31827959T>G	GRCh37
NC_000011.8:g.31784535T>G	NCBI36
NG_008679.1:g.16551A>C , LRG_720:g.16551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241001.13:c.1A>C	ENSP00000241001.8:p.Met1Leu
ENST00000379107.7:c.1A>C	ENSP00000368401.2:p.Met1Leu
ENST00000379109.7:c.1A>C	ENSP00000368403.2:p.Met1Leu
ENST00000379111.7:c.1A>C	ENSP00000368406.3:p.Met1Leu
ENST00000379115.9:c.1A>C	ENSP00000368410.5:p.Met1Leu
ENST00000379123.10:c.-551A>C	ENSP00000368418.6:n.-551A>C
ENST00000379129.7:c.1A>C	ENSP00000368424.2:p.Met1Leu
ENST00000379132.8:c.1A>C	ENSP00000368427.2:p.Met1Leu
ENST00000419022.6:c.1A>C	ENSP00000404100.1:p.Met1Leu
ENST00000423822.7:c.1A>C	ENSP00000388132.3:p.Met1Leu
ENST00000438681.6:c.1A>C	ENSP00000404356.2:p.Met1Leu
ENST00000455099.6:c.1A>C	ENSP00000397384.2:p.Met1Leu
ENST00000471303.6:n.423A>C
ENST00000474783.2:n.531A>C
ENST00000524853.6:c.1A>C	ENSP00000431585.2:p.Met1Leu
ENST00000525535.2:c.1A>C	ENSP00000436365.2:p.Met1Leu
ENST00000534390.2:n.88A>C
ENST00000606377.7:c.1A>C	ENSP00000480026.1:p.Met1Leu
ENST00000638250.1:c.-277A>C	ENSP00000491365.1:n.-277A>C
ENST00000638685.1:c.1A>C	ENSP00000492316.1:p.Met1Leu
ENST00000638696.1:c.1A>C	ENSP00000492756.1:p.Met1Leu
ENST00000638755.1:c.1A>C	ENSP00000492181.1:p.Met1Leu
ENST00000638913.1:n.446A>C
ENST00000638914.3:c.1A>C	ENSP00000492315.2:p.Met1Leu
ENST00000638963.1:c.1A>C	ENSP00000491948.1:p.Met1Leu
ENST00000638965.1:c.-81+11398A>C	ENSP00000492769.1:n.-81+11398A>C
ENST00000639034.2:c.1A>C	ENSP00000491679.1:p.Met1Leu
ENST00000639054.1:n.420A>C
ENST00000639394.1:c.1A>C	ENSP00000492177.1:p.Met1Leu
ENST00000639409.1:c.1A>C	ENSP00000492476.1:p.Met1Leu
ENST00000639916.1:c.1A>C	ENSP00000490963.1:p.Met1Leu
ENST00000639920.1:c.1A>C	ENSP00000492111.1:p.Met1Leu
ENST00000639943.1:c.1A>C	ENSP00000491229.1:p.Met1Leu
ENST00000639950.1:c.1A>C	ENSP00000491862.1:p.Met1Leu
ENST00000640172.1:n.534A>C
ENST00000640242.1:c.14-3577A>C	ENSP00000492409.1:n.14-3577A>C
ENST00000640287.1:c.1A>C	ENSP00000492822.1:p.Met1Leu
ENST00000640335.1:c.1A>C	ENSP00000492808.1:p.Met1Leu
ENST00000640368.2:c.1A>C MANE Select	ENSP00000492024.1:p.Met1Leu
ENST00000640431.1:c.1A>C	ENSP00000491779.1:p.Met1Leu
ENST00000640460.1:c.1A>C	ENSP00000492802.1:p.Met1Leu
ENST00000640610.1:c.1A>C	ENSP00000491295.1:p.Met1Leu
ENST00000640613.1:c.1A>C	ENSP00000492587.1:p.Met1Leu
ENST00000640684.1:c.1A>C	ENSP00000491492.1:p.Met1Leu
ENST00000640963.1:c.1A>C	ENSP00000492397.1:p.Met1Leu
ENST00000640975.1:c.1A>C	ENSP00000491872.1:p.Met1Leu
ENST00000643871.1:c.1A>C	ENSP00000495109.1:p.Met1Leu
ENST00000241001.12:c.1A>C	ENSP00000241001.8:p.Met1Leu
ENST00000379107.6:c.1A>C	ENSP00000368401.2:p.Met1Leu
ENST00000379109.6:c.1A>C	ENSP00000368403.2:p.Met1Leu
ENST00000379111.6:c.1A>C	ENSP00000368406.2:p.Met1Leu
ENST00000379115.8:c.1A>C	ENSP00000368410.4:p.Met1Leu
ENST00000379123.9:c.1A>C	ENSP00000368418.5:p.Met1Leu
ENST00000379129.6:c.1A>C	ENSP00000368424.2:p.Met1Leu
ENST00000379132.7:c.1A>C	ENSP00000368427.2:p.Met1Leu
ENST00000419022.5:c.1A>C	ENSP00000404100.1:p.Met1Leu
ENST00000423822.6:c.1A>C	ENSP00000388132.2:p.Met1Leu
ENST00000438681.5:c.1A>C	ENSP00000404356.1:p.Met1Leu
ENST00000455099.5:c.1A>C	ENSP00000397384.1:p.Met1Leu
ENST00000464174.5:n.129+11398A>C
ENST00000524853.5:c.1A>C	ENSP00000431585.1:p.Met1Leu
ENST00000525535.1:c.1A>C	ENSP00000436365.1:p.Met1Leu
ENST00000527769.5:n.420A>C
ENST00000532175.5:n.457A>C
ENST00000533333.5:n.413A>C
ENST00000606377.5:c.1A>C	ENSP00000480026.1:p.Met1Leu
NM_000280.4:c.1A>C	NP_000271.1:p.Met1Leu
NM_001127612.1:c.1A>C	NP_001121084.1:p.Met1Leu
NM_001258462.1:c.1A>C	NP_001245391.1:p.Met1Leu
NM_001258463.1:c.1A>C	NP_001245392.1:p.Met1Leu
NM_001258464.1:c.1A>C	NP_001245393.1:p.Met1Leu
NM_001258465.1:c.1A>C	NP_001245394.1:p.Met1Leu
NM_001310158.1:c.1A>C	NP_001297087.1:p.Met1Leu
NM_001310159.1:c.1A>C	NP_001297088.1:p.Met1Leu
NM_001604.5:c.1A>C	NP_001595.2:p.Met1Leu
XM_005252954.3:c.1A>C	XP_005253011.1:p.Met1Leu
XM_005252955.3:c.1A>C	XP_005253012.1:p.Met1Leu
XM_005252956.3:c.1A>C	XP_005253013.1:p.Met1Leu
XM_006718246.2:c.1A>C	XP_006718309.1:p.Met1Leu
XM_011520149.1:c.1A>C	XP_011518451.1:p.Met1Leu
XM_011520150.1:c.1A>C	XP_011518452.1:p.Met1Leu
XM_011520152.1:c.1A>C	XP_011518454.1:p.Met1Leu
NM_001127612.2:c.1A>C	NP_001121084.1:p.Met1Leu
NM_001258462.2:c.1A>C	NP_001245391.1:p.Met1Leu
NM_001258465.2:c.1A>C	NP_001245394.1:p.Met1Leu
NM_001368887.1:c.1A>C	NP_001355816.1:p.Met1Leu
NM_001368888.1:c.1A>C	NP_001355817.1:p.Met1Leu
NM_001368889.1:c.1A>C	NP_001355818.1:p.Met1Leu
NM_001368890.1:c.1A>C	NP_001355819.1:p.Met1Leu
NM_001368891.1:c.1A>C	NP_001355820.1:p.Met1Leu
NM_001368892.1:c.1A>C	NP_001355821.1:p.Met1Leu
NM_001368893.1:c.1A>C	NP_001355822.1:p.Met1Leu
NM_001368894.1:c.1A>C	NP_001355823.1:p.Met1Leu
NM_001368904.1:c.-277A>C	NP_001355833.1:n.-277A>C
NM_001368905.1:c.-781A>C	NP_001355834.1:n.-781A>C
NM_001368909.1:c.-268+4417A>C	NP_001355838.1:n.-268+4417A>C
NM_001368910.1:c.101A>C	NP_001355839.1:p.His34Pro
NM_001368911.1:c.14-3577A>C	NP_001355840.1:n.14-3577A>C
NM_001368912.1:c.1A>C	NP_001355841.1:p.Met1Leu
NM_001368913.1:c.1A>C	NP_001355842.1:p.Met1Leu
NM_001368914.1:c.1A>C	NP_001355843.1:p.Met1Leu
NM_001368915.1:c.1A>C	NP_001355844.1:p.Met1Leu
NM_001368916.1:c.1A>C	NP_001355845.1:p.Met1Leu
NM_001368917.1:c.1A>C	NP_001355846.1:p.Met1Leu
NM_001368918.1:c.1A>C	NP_001355847.1:p.Met1Leu
NM_001368919.1:c.1A>C	NP_001355848.1:p.Met1Leu
NM_001368920.1:c.1A>C	NP_001355849.1:p.Met1Leu
NM_001368921.1:c.1A>C	NP_001355850.1:p.Met1Leu
NM_001368922.1:c.1A>C	NP_001355851.1:p.Met1Leu
NM_001368923.1:c.1A>C	NP_001355852.1:p.Met1Leu
NM_001368924.1:c.1A>C	NP_001355853.1:p.Met1Leu
NM_001368925.1:c.1A>C	NP_001355854.1:p.Met1Leu
NM_001368926.1:c.1A>C	NP_001355855.1:p.Met1Leu
NM_001368927.1:c.1A>C	NP_001355856.1:p.Met1Leu
NM_001368928.1:c.1A>C	NP_001355857.1:p.Met1Leu
NR_160916.1:n.423A>C
NR_160917.1:n.470A>C
NM_000280.5:c.1A>C	NP_000271.1:p.Met1Leu
NM_001127612.3:c.1A>C	NP_001121084.1:p.Met1Leu
NM_001258462.3:c.1A>C	NP_001245391.1:p.Met1Leu
NM_001258463.2:c.1A>C	NP_001245392.1:p.Met1Leu
NM_001258464.2:c.1A>C	NP_001245393.1:p.Met1Leu
NM_001258465.3:c.1A>C	NP_001245394.1:p.Met1Leu
NM_001310158.2:c.1A>C	NP_001297087.1:p.Met1Leu
NM_001368887.2:c.1A>C	NP_001355816.1:p.Met1Leu
NM_001368888.2:c.1A>C	NP_001355817.1:p.Met1Leu
NM_001368889.2:c.1A>C	NP_001355818.1:p.Met1Leu
NM_001368890.2:c.1A>C	NP_001355819.1:p.Met1Leu
NM_001368891.2:c.1A>C	NP_001355820.1:p.Met1Leu
NM_001368892.2:c.1A>C	NP_001355821.1:p.Met1Leu
NM_001368893.2:c.1A>C	NP_001355822.1:p.Met1Leu
NM_001368894.2:c.1A>C MANE Select	NP_001355823.1:p.Met1Leu
NM_001368904.2:c.-277A>C	NP_001355833.1:n.-277A>C
NM_001368905.2:c.-781A>C	NP_001355834.1:n.-781A>C
NM_001368909.2:c.-268+4417A>C	NP_001355838.1:n.-268+4417A>C
NM_001368910.2:c.101A>C	NP_001355839.1:p.His34Pro
NM_001368911.2:c.14-3577A>C	NP_001355840.1:n.14-3577A>C
NM_001368912.2:c.1A>C	NP_001355841.1:p.Met1Leu
NM_001368913.2:c.1A>C	NP_001355842.1:p.Met1Leu
NM_001368914.2:c.1A>C	NP_001355843.1:p.Met1Leu
NM_001368915.2:c.1A>C	NP_001355844.1:p.Met1Leu
NM_001368916.2:c.1A>C	NP_001355845.1:p.Met1Leu
NM_001368917.2:c.1A>C	NP_001355846.1:p.Met1Leu
NM_001368918.2:c.1A>C	NP_001355847.1:p.Met1Leu
NM_001368919.2:c.1A>C	NP_001355848.1:p.Met1Leu
NM_001368920.2:c.1A>C	NP_001355849.1:p.Met1Leu
NM_001368921.2:c.1A>C	NP_001355850.1:p.Met1Leu
NM_001368922.2:c.1A>C	NP_001355851.1:p.Met1Leu
NM_001368923.2:c.1A>C	NP_001355852.1:p.Met1Leu
NM_001368924.2:c.1A>C	NP_001355853.1:p.Met1Leu
NM_001368925.2:c.1A>C	NP_001355854.1:p.Met1Leu
NM_001368926.2:c.1A>C	NP_001355855.1:p.Met1Leu
NM_001368927.2:c.1A>C	NP_001355856.1:p.Met1Leu
NM_001368928.2:c.1A>C	NP_001355857.1:p.Met1Leu
NM_001604.6:c.1A>C	NP_001595.2:p.Met1Leu
NR_160916.2:n.423A>C
NR_160917.2:n.470A>C
NM_000280.6:c.1A>C	NP_000271.1:p.Met1Leu