Canonical Allele Identifier: CA1792716265

Gene: EYA1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71271859C= , CM000670.2:g.71271859C=	GRCh38
NC_000008.10:g.72184094C= , CM000670.1:g.72184094C=	GRCh37
NC_000008.9:g.72346648C=	NCBI36
NG_011735.2:g.95374G=
NG_011735.3:g.281272G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.865G= MANE Select	ENSP00000342626.3:p.Asp289=
ENST00000388741.7:c.763G=	ENSP00000373393.2:p.Asp255=
ENST00000419131.6:c.850G=	ENSP00000410176.1:p.Asp284=
ENST00000465115.6:c.*144G=	ENSP00000428391.1:n.*144G=
ENST00000493349.2:c.101G=
ENST00000496494.6:n.1328G=
ENST00000642391.1:c.*632G=	ENSP00000496700.1:n.*632G=
ENST00000643681.1:c.952G=	ENSP00000495390.1:p.Asp318=
ENST00000644229.1:c.937G=	ENSP00000494568.1:p.Asp313=
ENST00000644712.1:c.934G=	ENSP00000496188.1:p.Asp312=
ENST00000645793.1:c.865G=	ENSP00000496255.1:p.Asp289=
ENST00000647540.1:c.865G=	ENSP00000494438.1:p.Asp289=
ENST00000303824.11:c.847G=	ENSP00000303221.7:p.Asp283=
ENST00000340726.7:c.865G=	ENSP00000342626.3:p.Asp289=
ENST00000388740.4:c.766G=	ENSP00000373392.3:p.Asp256=
ENST00000388741.6:c.763G=	ENSP00000373393.2:p.Asp255=
ENST00000388742.8:c.865G=	ENSP00000373394.4:p.Asp289=
ENST00000388743.6:c.862G=	ENSP00000373395.2:p.Asp288=
ENST00000419131.5:c.850G=	ENSP00000410176.1:p.Asp284=
ENST00000465115.5:c.*144G=	ENSP00000428391.1:n.*144G=
ENST00000493349.1:c.-219G=	ENSP00000428517.1:n.-219G=
ENST00000496494.5:n.1360G=
NM_000503.5:c.865G=	NP_000494.2:p.Asp289=
NM_001288574.1:c.847G=	NP_001275503.1:p.Asp283=
NM_001288575.1:c.499G=	NP_001275504.1:p.Asp167=
NM_172058.3:c.865G=	NP_742055.1:p.Asp289=
NM_172059.3:c.850G=	NP_742056.1:p.Asp284=
NM_172060.3:c.766G=	NP_742057.1:p.Asp256=
XM_011517481.1:c.937G=	XP_011515783.1:p.Asp313=
XM_011517482.1:c.952G=	XP_011515784.1:p.Asp318=
XM_011517483.1:c.862G=	XP_011515785.1:p.Asp288=
XM_011517484.1:c.850G=	XP_011515786.1:p.Asp284=
XM_011517485.1:c.865G=	XP_011515787.1:p.Asp289=
XM_011517486.1:c.865G=	XP_011515788.1:p.Asp289=
XM_011517487.1:c.865G=	XP_011515789.1:p.Asp289=
XM_011517488.1:c.862G=	XP_011515790.1:p.Asp288=
XM_011517489.1:c.802G=	XP_011515791.1:p.Asp268=
XM_011517490.1:c.766G=	XP_011515792.1:p.Asp256=
XM_011517491.1:c.766G=	XP_011515793.1:p.Asp256=
XM_011517492.1:c.514G=	XP_011515794.1:p.Asp172=
NM_172059.4:c.937G=	NP_742056.2:p.Asp313=
XM_011517483.2:c.862G=	XP_011515785.1:p.Asp288=
XM_011517484.3:c.937G=	XP_011515786.2:p.Asp313=
XM_017013201.1:c.952G=	XP_016868690.1:p.Asp318=
XM_017013202.1:c.952G=	XP_016868691.1:p.Asp318=
XM_017013203.2:c.949G=	XP_016868692.1:p.Asp317=
XM_017013204.2:c.934G=	XP_016868693.1:p.Asp312=
XM_017013205.2:c.952G=	XP_016868694.1:p.Asp318=
XM_017013206.1:c.865G=	XP_016868695.1:p.Asp289=
XM_017013207.2:c.952G=	XP_016868696.1:p.Asp318=
XM_017013208.2:c.862G=	XP_016868697.1:p.Asp288=
XM_017013210.2:c.934G=	XP_016868699.1:p.Asp312=
XM_017013211.2:c.802G=	XP_016868700.1:p.Asp268=
XM_017013212.2:c.766G=	XP_016868701.1:p.Asp256=
XM_017013213.1:c.514G=	XP_016868702.1:p.Asp172=
NM_000503.6:c.865G= MANE Select	NP_000494.2:p.Asp289=
NM_001288574.2:c.847G=	NP_001275503.1:p.Asp283=
NM_001288575.2:c.499G=	NP_001275504.1:p.Asp167=
NM_001370333.1:c.952G=	NP_001357262.1:p.Asp318=
NM_001370334.1:c.865G=	NP_001357263.1:p.Asp289=
NM_001370335.1:c.865G=	NP_001357264.1:p.Asp289=
NM_001370336.1:c.934G=	NP_001357265.1:p.Asp312=
NM_172058.4:c.865G=	NP_742055.1:p.Asp289=
NM_172059.5:c.937G=	NP_742056.2:p.Asp313=