Canonical Allele Identifier: CA254271
Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7935
dbSNP Id: rs121909196

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.71216733C>T , CM000670.2:g.71216733C>T GRCh38
NC_000008.10:g.72128968C>T , CM000670.1:g.72128968C>T GRCh37
NC_000008.9:g.72291522C>T NCBI36
NG_011735.2:g.150500G>A
NG_011735.3:g.336398G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340726.8:c.1319G>A MANE Select ENSP00000342626.3:p.Arg440Gln
ENST00000388741.7:c.1217G>A ENSP00000373393.2:p.Arg406Gln
ENST00000419131.6:c.1214G>A ENSP00000410176.1:p.Arg405Gln
ENST00000465115.6:c.*598G>A ENSP00000428391.1:n.*598G>A
ENST00000493349.2:c.709G>A
ENST00000496494.6:n.1782G>A
ENST00000642391.1:c.*996G>A ENSP00000496700.1:n.*996G>A
ENST00000643681.1:c.1406G>A ENSP00000495390.1:p.Arg469Gln
ENST00000644229.1:c.1301G>A ENSP00000494568.1:p.Arg434Gln
ENST00000644424.1:n.389G>A
ENST00000644712.1:c.1298G>A ENSP00000496188.1:p.Arg433Gln
ENST00000645793.1:c.1319G>A ENSP00000496255.1:p.Arg440Gln
ENST00000647540.1:c.1319G>A ENSP00000494438.1:p.Arg440Gln
ENST00000303824.11:c.1301G>A ENSP00000303221.7:p.Arg434Gln
ENST00000340726.7:c.1319G>A ENSP00000342626.3:p.Arg440Gln
ENST00000388740.4:c.1220G>A ENSP00000373392.3:p.Arg407Gln
ENST00000388741.6:c.1217G>A ENSP00000373393.2:p.Arg406Gln
ENST00000388742.8:c.1319G>A ENSP00000373394.4:p.Arg440Gln
ENST00000388743.6:c.1316G>A ENSP00000373395.2:p.Arg439Gln
ENST00000419131.5:c.1214G>A ENSP00000410176.1:p.Arg405Gln
ENST00000465115.5:c.*598G>A ENSP00000428391.1:n.*598G>A
ENST00000493349.1:c.*264G>A ENSP00000428517.1:n.*264G>A
ENST00000496494.5:n.1814G>A
NM_000503.5:c.1319G>A NP_000494.2:p.Arg440Gln
NM_001288574.1:c.1301G>A NP_001275503.1:p.Arg434Gln
NM_001288575.1:c.953G>A NP_001275504.1:p.Arg318Gln
NM_172058.3:c.1319G>A NP_742055.1:p.Arg440Gln
NM_172059.3:c.1214G>A NP_742056.1:p.Arg405Gln
NM_172060.3:c.1220G>A NP_742057.1:p.Arg407Gln
XM_011517481.1:c.1391G>A XP_011515783.1:p.Arg464Gln
XM_011517482.1:c.1406G>A XP_011515784.1:p.Arg469Gln
XM_011517483.1:c.1316G>A XP_011515785.1:p.Arg439Gln
XM_011517484.1:c.1304G>A XP_011515786.1:p.Arg435Gln
XM_011517485.1:c.1319G>A XP_011515787.1:p.Arg440Gln
XM_011517486.1:c.1319G>A XP_011515788.1:p.Arg440Gln
XM_011517487.1:c.1319G>A XP_011515789.1:p.Arg440Gln
XM_011517488.1:c.1316G>A XP_011515790.1:p.Arg439Gln
XM_011517489.1:c.1256G>A XP_011515791.1:p.Arg419Gln
XM_011517490.1:c.1220G>A XP_011515792.1:p.Arg407Gln
XM_011517491.1:c.1220G>A XP_011515793.1:p.Arg407Gln
XM_011517492.1:c.968G>A XP_011515794.1:p.Arg323Gln
NM_172059.4:c.1301G>A NP_742056.2:p.Arg434Gln
XM_011517483.2:c.1316G>A XP_011515785.1:p.Arg439Gln
XM_011517484.3:c.1391G>A XP_011515786.2:p.Arg464Gln
XM_017013201.1:c.1406G>A XP_016868690.1:p.Arg469Gln
XM_017013202.1:c.1406G>A XP_016868691.1:p.Arg469Gln
XM_017013203.2:c.1403G>A XP_016868692.1:p.Arg468Gln
XM_017013204.2:c.1388G>A XP_016868693.1:p.Arg463Gln
XM_017013205.2:c.1406G>A XP_016868694.1:p.Arg469Gln
XM_017013206.1:c.1319G>A XP_016868695.1:p.Arg440Gln
XM_017013207.2:c.1316G>A XP_016868696.1:p.Arg439Gln
XM_017013208.2:c.1316G>A XP_016868697.1:p.Arg439Gln
XM_017013210.2:c.1298G>A XP_016868699.1:p.Arg433Gln
XM_017013211.2:c.1256G>A XP_016868700.1:p.Arg419Gln
XM_017013212.2:c.1220G>A XP_016868701.1:p.Arg407Gln
XM_017013213.1:c.968G>A XP_016868702.1:p.Arg323Gln
NM_000503.6:c.1319G>A MANE Select NP_000494.2:p.Arg440Gln
NM_001288574.2:c.1301G>A NP_001275503.1:p.Arg434Gln
NM_001288575.2:c.953G>A NP_001275504.1:p.Arg318Gln
NM_001370333.1:c.1406G>A NP_001357262.1:p.Arg469Gln
NM_001370334.1:c.1319G>A NP_001357263.1:p.Arg440Gln
NM_001370335.1:c.1319G>A NP_001357264.1:p.Arg440Gln
NM_001370336.1:c.1298G>A NP_001357265.1:p.Arg433Gln
NM_172058.4:c.1319G>A NP_742055.1:p.Arg440Gln
NM_172059.5:c.1301G>A NP_742056.2:p.Arg434Gln