Canonical Allele Identifier: CA1792716239

Gene: EYA1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71271808G= , CM000670.2:g.71271808G=	GRCh38
NC_000008.10:g.72184043G= , CM000670.1:g.72184043G=	GRCh37
NC_000008.9:g.72346597G=	NCBI36
NG_011735.2:g.95425C=
NG_011735.3:g.281323C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.916C= MANE Select	ENSP00000342626.3:p.Arg306=
ENST00000388741.7:c.814C=	ENSP00000373393.2:p.Arg272=
ENST00000419131.6:c.901C=	ENSP00000410176.1:p.Arg301=
ENST00000465115.6:c.*195C=	ENSP00000428391.1:n.*195C=
ENST00000493349.2:c.152C=
ENST00000496494.6:n.1379C=
ENST00000642391.1:c.*683C=	ENSP00000496700.1:n.*683C=
ENST00000643681.1:c.1003C=	ENSP00000495390.1:p.Arg335=
ENST00000644229.1:c.988C=	ENSP00000494568.1:p.Arg330=
ENST00000644712.1:c.985C=	ENSP00000496188.1:p.Arg329=
ENST00000645793.1:c.916C=	ENSP00000496255.1:p.Arg306=
ENST00000647540.1:c.916C=	ENSP00000494438.1:p.Arg306=
ENST00000303824.11:c.898C=	ENSP00000303221.7:p.Arg300=
ENST00000340726.7:c.916C=	ENSP00000342626.3:p.Arg306=
ENST00000388740.4:c.817C=	ENSP00000373392.3:p.Arg273=
ENST00000388741.6:c.814C=	ENSP00000373393.2:p.Arg272=
ENST00000388742.8:c.916C=	ENSP00000373394.4:p.Arg306=
ENST00000388743.6:c.913C=	ENSP00000373395.2:p.Arg305=
ENST00000419131.5:c.901C=	ENSP00000410176.1:p.Arg301=
ENST00000465115.5:c.*195C=	ENSP00000428391.1:n.*195C=
ENST00000493349.1:c.-168C=	ENSP00000428517.1:n.-168C=
ENST00000496494.5:n.1411C=
NM_000503.5:c.916C=	NP_000494.2:p.Arg306=
NM_001288574.1:c.898C=	NP_001275503.1:p.Arg300=
NM_001288575.1:c.550C=	NP_001275504.1:p.Arg184=
NM_172058.3:c.916C=	NP_742055.1:p.Arg306=
NM_172059.3:c.901C=	NP_742056.1:p.Arg301=
NM_172060.3:c.817C=	NP_742057.1:p.Arg273=
XM_011517481.1:c.988C=	XP_011515783.1:p.Arg330=
XM_011517482.1:c.1003C=	XP_011515784.1:p.Arg335=
XM_011517483.1:c.913C=	XP_011515785.1:p.Arg305=
XM_011517484.1:c.901C=	XP_011515786.1:p.Arg301=
XM_011517485.1:c.916C=	XP_011515787.1:p.Arg306=
XM_011517486.1:c.916C=	XP_011515788.1:p.Arg306=
XM_011517487.1:c.916C=	XP_011515789.1:p.Arg306=
XM_011517488.1:c.913C=	XP_011515790.1:p.Arg305=
XM_011517489.1:c.853C=	XP_011515791.1:p.Arg285=
XM_011517490.1:c.817C=	XP_011515792.1:p.Arg273=
XM_011517491.1:c.817C=	XP_011515793.1:p.Arg273=
XM_011517492.1:c.565C=	XP_011515794.1:p.Arg189=
NM_172059.4:c.988C=	NP_742056.2:p.Arg330=
XM_011517483.2:c.913C=	XP_011515785.1:p.Arg305=
XM_011517484.3:c.988C=	XP_011515786.2:p.Arg330=
XM_017013201.1:c.1003C=	XP_016868690.1:p.Arg335=
XM_017013202.1:c.1003C=	XP_016868691.1:p.Arg335=
XM_017013203.2:c.1000C=	XP_016868692.1:p.Arg334=
XM_017013204.2:c.985C=	XP_016868693.1:p.Arg329=
XM_017013205.2:c.1003C=	XP_016868694.1:p.Arg335=
XM_017013206.1:c.916C=	XP_016868695.1:p.Arg306=
XM_017013207.2:c.1003C=	XP_016868696.1:p.Arg335=
XM_017013208.2:c.913C=	XP_016868697.1:p.Arg305=
XM_017013210.2:c.985C=	XP_016868699.1:p.Arg329=
XM_017013211.2:c.853C=	XP_016868700.1:p.Arg285=
XM_017013212.2:c.817C=	XP_016868701.1:p.Arg273=
XM_017013213.1:c.565C=	XP_016868702.1:p.Arg189=
NM_000503.6:c.916C= MANE Select	NP_000494.2:p.Arg306=
NM_001288574.2:c.898C=	NP_001275503.1:p.Arg300=
NM_001288575.2:c.550C=	NP_001275504.1:p.Arg184=
NM_001370333.1:c.1003C=	NP_001357262.1:p.Arg335=
NM_001370334.1:c.916C=	NP_001357263.1:p.Arg306=
NM_001370335.1:c.916C=	NP_001357264.1:p.Arg306=
NM_001370336.1:c.985C=	NP_001357265.1:p.Arg329=
NM_172058.4:c.916C=	NP_742055.1:p.Arg306=
NM_172059.5:c.988C=	NP_742056.2:p.Arg330=