Canonical Allele Identifier: CA1792693823
Community Standard Title: NM_000503.6(EYA1):c.1090G= (p.Glu364=)
Gene: EYA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.71244653C= , CM000670.2:g.71244653C= GRCh38
NC_000008.10:g.72156888C= , CM000670.1:g.72156888C= GRCh37
NC_000008.9:g.72319442C= NCBI36
NG_011735.2:g.122580G=
NG_011735.3:g.308478G=

Transcript Alleles

HGVS Amino-acid Change
NM_000503.6:c.1090G= MANE Select NP_000494.2:p.Glu364=
ENST00000340726.8:c.1090G= MANE Select ENSP00000342626.3:p.Glu364=
NM_000503.5:c.1090G= NP_000494.2:p.Glu364=
NM_001288574.1:c.1072G= NP_001275503.1:p.Glu358=
NM_001288574.2:c.1072G= NP_001275503.1:p.Glu358=
NM_001288575.1:c.724G= NP_001275504.1:p.Glu242=
NM_001288575.2:c.724G= NP_001275504.1:p.Glu242=
NM_001370333.1:c.1177G= NP_001357262.1:p.Glu393=
NM_001370334.1:c.1090G= NP_001357263.1:p.Glu364=
NM_001370335.1:c.1090G= NP_001357264.1:p.Glu364=
NM_001370336.1:c.1119+25087G= NP_001357265.1:n.1119+25087G=
NM_172058.3:c.1090G= NP_742055.1:p.Glu364=
NM_172058.4:c.1090G= NP_742055.1:p.Glu364=
NM_172059.3:c.1035+25087G= NP_742056.1:n.1035+25087G=
NM_172059.4:c.1122+25087G= NP_742056.2:n.1122+25087G=
NM_172059.5:c.1122+25087G= NP_742056.2:n.1122+25087G=
NM_172060.3:c.991G= NP_742057.1:p.Glu331=
ENST00000303824.11:c.1072G= ENSP00000303221.7:p.Glu358=
ENST00000340726.7:c.1090G= ENSP00000342626.3:p.Glu364=
ENST00000388740.4:c.991G= ENSP00000373392.3:p.Glu331=
ENST00000388741.6:c.988G= ENSP00000373393.2:p.Glu330=
ENST00000388741.7:c.988G= ENSP00000373393.2:p.Glu330=
ENST00000388742.8:c.1090G= ENSP00000373394.4:p.Glu364=
ENST00000388743.6:c.1087G= ENSP00000373395.2:p.Glu363=
ENST00000419131.5:c.1035+25087G= ENSP00000410176.1:n.1035+25087G=
ENST00000419131.6:c.1035+25087G= ENSP00000410176.1:n.1035+25087G=
ENST00000465115.5:c.*369G= ENSP00000428391.1:n.*369G=
ENST00000465115.6:c.*369G= ENSP00000428391.1:n.*369G=
ENST00000493349.1:c.7G= ENSP00000428517.1:p.Glu3=
ENST00000493349.2:c.326G=
ENST00000496494.5:n.1585G=
ENST00000496494.6:n.1553G=
ENST00000642391.1:c.*817+25087G= ENSP00000496700.1:n.*817+25087G=
ENST00000643681.1:c.1177G= ENSP00000495390.1:p.Glu393=
ENST00000644229.1:c.1122+25087G= ENSP00000494568.1:n.1122+25087G=
ENST00000644424.1:n.160G=
ENST00000644712.1:c.1119+25087G= ENSP00000496188.1:n.1119+25087G=
ENST00000645793.1:c.1090G= ENSP00000496255.1:p.Glu364=
ENST00000647540.1:c.1090G= ENSP00000494438.1:p.Glu364=
XM_011517481.1:c.1162G= XP_011515783.1:p.Glu388=
XM_011517482.1:c.1177G= XP_011515784.1:p.Glu393=
XM_011517483.1:c.1087G= XP_011515785.1:p.Glu363=
XM_011517483.2:c.1087G= XP_011515785.1:p.Glu363=
XM_011517484.1:c.1075G= XP_011515786.1:p.Glu359=
XM_011517484.3:c.1162G= XP_011515786.2:p.Glu388=
XM_011517485.1:c.1090G= XP_011515787.1:p.Glu364=
XM_011517486.1:c.1090G= XP_011515788.1:p.Glu364=
XM_011517487.1:c.1090G= XP_011515789.1:p.Glu364=
XM_011517488.1:c.1087G= XP_011515790.1:p.Glu363=
XM_011517489.1:c.1027G= XP_011515791.1:p.Glu343=
XM_011517490.1:c.991G= XP_011515792.1:p.Glu331=
XM_011517491.1:c.991G= XP_011515793.1:p.Glu331=
XM_011517492.1:c.739G= XP_011515794.1:p.Glu247=
XM_017013201.1:c.1177G= XP_016868690.1:p.Glu393=
XM_017013202.1:c.1177G= XP_016868691.1:p.Glu393=
XM_017013203.2:c.1174G= XP_016868692.1:p.Glu392=
XM_017013204.2:c.1159G= XP_016868693.1:p.Glu387=
XM_017013205.2:c.1177G= XP_016868694.1:p.Glu393=
XM_017013206.1:c.1090G= XP_016868695.1:p.Glu364=
XM_017013207.2:c.1137+25087G= XP_016868696.1:n.1137+25087G=
XM_017013208.2:c.1087G= XP_016868697.1:p.Glu363=
XM_017013210.2:c.1119+25087G= XP_016868699.1:n.1119+25087G=
XM_017013211.2:c.1027G= XP_016868700.1:p.Glu343=
XM_017013212.2:c.991G= XP_016868701.1:p.Glu331=
XM_017013213.1:c.739G= XP_016868702.1:p.Glu247=