Canonical Allele Identifier: CA254276
Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7941
ClinVar RCV Id: RCV000008403
dbSNP Id: rs121909201

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.71215470A>C , CM000670.2:g.71215470A>C GRCh38
NC_000008.10:g.72127705A>C , CM000670.1:g.72127705A>C GRCh37
NC_000008.9:g.72290259A>C NCBI36
NG_011735.2:g.151763T>G
NG_011735.3:g.337661T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340726.8:c.1514T>G MANE Select ENSP00000342626.3:p.Leu505Arg
ENST00000388741.7:c.1412T>G ENSP00000373393.2:p.Leu471Arg
ENST00000419131.6:c.1409T>G ENSP00000410176.1:p.Leu470Arg
ENST00000465115.6:c.*793T>G ENSP00000428391.1:n.*793T>G
ENST00000496494.6:n.1977T>G
ENST00000642391.1:c.*1191T>G ENSP00000496700.1:n.*1191T>G
ENST00000643681.1:c.1601T>G ENSP00000495390.1:p.Leu534Arg
ENST00000644229.1:c.1496T>G ENSP00000494568.1:p.Leu499Arg
ENST00000644424.1:n.584T>G
ENST00000644712.1:c.1493T>G ENSP00000496188.1:p.Leu498Arg
ENST00000645793.1:c.1514T>G ENSP00000496255.1:p.Leu505Arg
ENST00000647540.1:c.1514T>G ENSP00000494438.1:p.Leu505Arg
ENST00000303824.11:c.1496T>G ENSP00000303221.7:p.Leu499Arg
ENST00000340726.7:c.1514T>G ENSP00000342626.3:p.Leu505Arg
ENST00000388740.4:c.1415T>G ENSP00000373392.3:p.Leu472Arg
ENST00000388741.6:c.1412T>G ENSP00000373393.2:p.Leu471Arg
ENST00000388742.8:c.1514T>G ENSP00000373394.4:p.Leu505Arg
ENST00000388743.6:c.1511T>G ENSP00000373395.2:p.Leu504Arg
ENST00000419131.5:c.1409T>G ENSP00000410176.1:p.Leu470Arg
ENST00000465115.5:c.*793T>G ENSP00000428391.1:n.*793T>G
ENST00000496494.5:n.2009T>G
NM_000503.5:c.1514T>G NP_000494.2:p.Leu505Arg
NM_001288574.1:c.1496T>G NP_001275503.1:p.Leu499Arg
NM_001288575.1:c.1148T>G NP_001275504.1:p.Leu383Arg
NM_172058.3:c.1514T>G NP_742055.1:p.Leu505Arg
NM_172059.3:c.1409T>G NP_742056.1:p.Leu470Arg
NM_172060.3:c.1415T>G NP_742057.1:p.Leu472Arg
XM_011517481.1:c.1586T>G XP_011515783.1:p.Leu529Arg
XM_011517482.1:c.1601T>G XP_011515784.1:p.Leu534Arg
XM_011517483.1:c.1511T>G XP_011515785.1:p.Leu504Arg
XM_011517484.1:c.1499T>G XP_011515786.1:p.Leu500Arg
XM_011517485.1:c.1514T>G XP_011515787.1:p.Leu505Arg
XM_011517486.1:c.1514T>G XP_011515788.1:p.Leu505Arg
XM_011517487.1:c.1514T>G XP_011515789.1:p.Leu505Arg
XM_011517488.1:c.1511T>G XP_011515790.1:p.Leu504Arg
XM_011517489.1:c.1451T>G XP_011515791.1:p.Leu484Arg
XM_011517490.1:c.1415T>G XP_011515792.1:p.Leu472Arg
XM_011517491.1:c.1415T>G XP_011515793.1:p.Leu472Arg
XM_011517492.1:c.1163T>G XP_011515794.1:p.Leu388Arg
NM_172059.4:c.1496T>G NP_742056.2:p.Leu499Arg
XM_011517483.2:c.1511T>G XP_011515785.1:p.Leu504Arg
XM_011517484.3:c.1586T>G XP_011515786.2:p.Leu529Arg
XM_017013201.1:c.1601T>G XP_016868690.1:p.Leu534Arg
XM_017013202.1:c.1601T>G XP_016868691.1:p.Leu534Arg
XM_017013203.2:c.1598T>G XP_016868692.1:p.Leu533Arg
XM_017013204.2:c.1583T>G XP_016868693.1:p.Leu528Arg
XM_017013205.2:c.1601T>G XP_016868694.1:p.Leu534Arg
XM_017013206.1:c.1514T>G XP_016868695.1:p.Leu505Arg
XM_017013207.2:c.1511T>G XP_016868696.1:p.Leu504Arg
XM_017013208.2:c.1511T>G XP_016868697.1:p.Leu504Arg
XM_017013210.2:c.1493T>G XP_016868699.1:p.Leu498Arg
XM_017013211.2:c.1451T>G XP_016868700.1:p.Leu484Arg
XM_017013212.2:c.1415T>G XP_016868701.1:p.Leu472Arg
XM_017013213.1:c.1163T>G XP_016868702.1:p.Leu388Arg
NM_000503.6:c.1514T>G MANE Select NP_000494.2:p.Leu505Arg
NM_001288574.2:c.1496T>G NP_001275503.1:p.Leu499Arg
NM_001288575.2:c.1148T>G NP_001275504.1:p.Leu383Arg
NM_001370333.1:c.1601T>G NP_001357262.1:p.Leu534Arg
NM_001370334.1:c.1514T>G NP_001357263.1:p.Leu505Arg
NM_001370335.1:c.1514T>G NP_001357264.1:p.Leu505Arg
NM_001370336.1:c.1493T>G NP_001357265.1:p.Leu498Arg
NM_172058.4:c.1514T>G NP_742055.1:p.Leu505Arg
NM_172059.5:c.1496T>G NP_742056.2:p.Leu499Arg