Canonical Allele Identifier: CA1792681678

Gene: EYA1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71211239C= , CM000670.2:g.71211239C=	GRCh38
NC_000008.10:g.72123474C= , CM000670.1:g.72123474C=	GRCh37
NC_000008.9:g.72286028C=	NCBI36
NG_011735.2:g.155994G=
NG_011735.3:g.341892G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1615G= MANE Select	ENSP00000342626.3:p.Glu539=
ENST00000388741.7:c.1513G=	ENSP00000373393.2:p.Glu505=
ENST00000419131.6:c.1510G=	ENSP00000410176.1:p.Glu504=
ENST00000465115.6:c.*894G=	ENSP00000428391.1:n.*894G=
ENST00000496494.6:n.2078G=
ENST00000642391.1:c.*1292G=	ENSP00000496700.1:n.*1292G=
ENST00000643681.1:c.1702G=	ENSP00000495390.1:p.Glu568=
ENST00000644229.1:c.1597G=	ENSP00000494568.1:p.Glu533=
ENST00000644424.1:n.685G=
ENST00000644712.1:c.1594G=	ENSP00000496188.1:p.Glu532=
ENST00000645793.1:c.1615G=	ENSP00000496255.1:p.Glu539=
ENST00000647540.1:c.1615G=	ENSP00000494438.1:p.Glu539=
ENST00000303824.11:c.1597G=	ENSP00000303221.7:p.Glu533=
ENST00000340726.7:c.1615G=	ENSP00000342626.3:p.Glu539=
ENST00000388740.4:c.1516G=	ENSP00000373392.3:p.Glu506=
ENST00000388741.6:c.1513G=	ENSP00000373393.2:p.Glu505=
ENST00000388742.8:c.1615G=	ENSP00000373394.4:p.Glu539=
ENST00000388743.6:c.1612G=	ENSP00000373395.2:p.Glu538=
ENST00000419131.5:c.1510G=	ENSP00000410176.1:p.Glu504=
ENST00000465115.5:c.*894G=	ENSP00000428391.1:n.*894G=
ENST00000496494.5:n.2110G=
NM_000503.5:c.1615G=	NP_000494.2:p.Glu539=
NM_001288574.1:c.1597G=	NP_001275503.1:p.Glu533=
NM_001288575.1:c.1249G=	NP_001275504.1:p.Glu417=
NM_172058.3:c.1615G=	NP_742055.1:p.Glu539=
NM_172059.3:c.1510G=	NP_742056.1:p.Glu504=
NM_172060.3:c.1516G=	NP_742057.1:p.Glu506=
XM_011517481.1:c.1687G=	XP_011515783.1:p.Glu563=
XM_011517482.1:c.1702G=	XP_011515784.1:p.Glu568=
XM_011517483.1:c.1612G=	XP_011515785.1:p.Glu538=
XM_011517484.1:c.1600G=	XP_011515786.1:p.Glu534=
XM_011517485.1:c.1615G=	XP_011515787.1:p.Glu539=
XM_011517486.1:c.1615G=	XP_011515788.1:p.Glu539=
XM_011517487.1:c.1615G=	XP_011515789.1:p.Glu539=
XM_011517488.1:c.1612G=	XP_011515790.1:p.Glu538=
XM_011517489.1:c.1552G=	XP_011515791.1:p.Glu518=
XM_011517490.1:c.1516G=	XP_011515792.1:p.Glu506=
XM_011517491.1:c.1516G=	XP_011515793.1:p.Glu506=
XM_011517492.1:c.1264G=	XP_011515794.1:p.Glu422=
NM_172059.4:c.1597G=	NP_742056.2:p.Glu533=
XM_011517483.2:c.1612G=	XP_011515785.1:p.Glu538=
XM_011517484.3:c.1687G=	XP_011515786.2:p.Glu563=
XM_017013201.1:c.1702G=	XP_016868690.1:p.Glu568=
XM_017013202.1:c.1702G=	XP_016868691.1:p.Glu568=
XM_017013203.2:c.1699G=	XP_016868692.1:p.Glu567=
XM_017013204.2:c.1684G=	XP_016868693.1:p.Glu562=
XM_017013205.2:c.1702G=	XP_016868694.1:p.Glu568=
XM_017013206.1:c.1615G=	XP_016868695.1:p.Glu539=
XM_017013207.2:c.1612G=	XP_016868696.1:p.Glu538=
XM_017013208.2:c.1612G=	XP_016868697.1:p.Glu538=
XM_017013210.2:c.1594G=	XP_016868699.1:p.Glu532=
XM_017013211.2:c.1552G=	XP_016868700.1:p.Glu518=
XM_017013212.2:c.1516G=	XP_016868701.1:p.Glu506=
XM_017013213.1:c.1264G=	XP_016868702.1:p.Glu422=
NM_000503.6:c.1615G= MANE Select	NP_000494.2:p.Glu539=
NM_001288574.2:c.1597G=	NP_001275503.1:p.Glu533=
NM_001288575.2:c.1249G=	NP_001275504.1:p.Glu417=
NM_001370333.1:c.1702G=	NP_001357262.1:p.Glu568=
NM_001370334.1:c.1615G=	NP_001357263.1:p.Glu539=
NM_001370335.1:c.1615G=	NP_001357264.1:p.Glu539=
NM_001370336.1:c.1594G=	NP_001357265.1:p.Glu532=
NM_172058.4:c.1615G=	NP_742055.1:p.Glu539=
NM_172059.5:c.1597G=	NP_742056.2:p.Glu533=