Canonical Allele Identifier: CA4779369

Gene: EYA1

Linked Data

• ClinVar Variation Id: 504571
• ClinVar RCV Id: RCV000609258 ; RCV003594001
• dbSNP Id: rs770876882
• ExAC: 8:72111620 C / T
• gnomAD v2: 8-72111620-C-T
• gnomAD v3: 8-71199385-C-T
• gnomAD v4: 8-71199385-C-T
• COSMIC: COSM6216508 ; COSM6216509
• MyVariant Identifiers: chr8:g.72111620C>T (hg19) ; chr8:g.71199385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71199385C>T , CM000670.2:g.71199385C>T	GRCh38
NC_000008.10:g.72111620C>T , CM000670.1:g.72111620C>T	GRCh37
NC_000008.9:g.72274174C>T	NCBI36
NG_011735.2:g.167848G>A
NG_011735.3:g.353746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1734G>A MANE Select	ENSP00000342626.3:p.Ser578=
ENST00000388741.7:c.1632G>A	ENSP00000373393.2:p.Ser544=
ENST00000419131.6:c.1629G>A	ENSP00000410176.1:p.Ser543=
ENST00000465115.6:c.*1013G>A	ENSP00000428391.1:n.*1013G>A
ENST00000496494.6:n.2197G>A
ENST00000642391.1:c.*1411G>A	ENSP00000496700.1:n.*1411G>A
ENST00000643681.1:c.1821G>A	ENSP00000495390.1:p.Ser607=
ENST00000644229.1:c.1716G>A	ENSP00000494568.1:p.Ser572=
ENST00000644424.1:n.804G>A
ENST00000644712.1:c.1713G>A	ENSP00000496188.1:p.Ser571=
ENST00000645793.1:c.1734G>A	ENSP00000496255.1:p.Ser578=
ENST00000647540.1:c.1734G>A	ENSP00000494438.1:p.Ser578=
ENST00000303824.11:c.1716G>A	ENSP00000303221.7:p.Ser572=
ENST00000340726.7:c.1734G>A	ENSP00000342626.3:p.Ser578=
ENST00000388740.4:c.1635G>A	ENSP00000373392.3:p.Ser545=
ENST00000388741.6:c.1632G>A	ENSP00000373393.2:p.Ser544=
ENST00000388742.8:c.1734G>A	ENSP00000373394.4:p.Ser578=
ENST00000388743.6:c.1731G>A	ENSP00000373395.2:p.Ser577=
ENST00000419131.5:c.1629G>A	ENSP00000410176.1:p.Ser543=
ENST00000465115.5:c.*1013G>A	ENSP00000428391.1:n.*1013G>A
ENST00000496494.5:n.2229G>A
NM_000503.5:c.1734G>A	NP_000494.2:p.Ser578=
NM_001288574.1:c.1716G>A	NP_001275503.1:p.Ser572=
NM_001288575.1:c.1368G>A	NP_001275504.1:p.Ser456=
NM_172058.3:c.1734G>A	NP_742055.1:p.Ser578=
NM_172059.3:c.1629G>A	NP_742056.1:p.Ser543=
NM_172060.3:c.1635G>A	NP_742057.1:p.Ser545=
XM_011517481.1:c.1807G>A	XP_011515783.1:p.Gly603Arg
XM_011517482.1:c.1822G>A	XP_011515784.1:p.Gly608Arg
XM_011517483.1:c.1731G>A	XP_011515785.1:p.Ser577=
XM_011517484.1:c.1719G>A	XP_011515786.1:p.Ser573=
XM_011517485.1:c.1735G>A	XP_011515787.1:p.Gly579Arg
XM_011517486.1:c.1735G>A	XP_011515788.1:p.Gly579Arg
XM_011517487.1:c.1735G>A	XP_011515789.1:p.Gly579Arg
XM_011517488.1:c.1732G>A	XP_011515790.1:p.Gly578Arg
XM_011517489.1:c.1672G>A	XP_011515791.1:p.Gly558Arg
XM_011517490.1:c.1636G>A	XP_011515792.1:p.Gly546Arg
XM_011517491.1:c.1636G>A	XP_011515793.1:p.Gly546Arg
XM_011517492.1:c.1384G>A	XP_011515794.1:p.Gly462Arg
NM_172059.4:c.1716G>A	NP_742056.2:p.Ser572=
XM_011517483.2:c.1731G>A	XP_011515785.1:p.Ser577=
XM_011517484.3:c.1806G>A	XP_011515786.2:p.Ser602=
XM_017013201.1:c.1821G>A	XP_016868690.1:p.Ser607=
XM_017013202.1:c.1821G>A	XP_016868691.1:p.Ser607=
XM_017013203.2:c.1818G>A	XP_016868692.1:p.Ser606=
XM_017013204.2:c.1803G>A	XP_016868693.1:p.Ser601=
XM_017013206.1:c.1734G>A	XP_016868695.1:p.Ser578=
XM_017013207.2:c.1731G>A	XP_016868696.1:p.Ser577=
XM_017013208.2:c.1731G>A	XP_016868697.1:p.Ser577=
XM_017013210.2:c.1713G>A	XP_016868699.1:p.Ser571=
XM_017013211.2:c.1671G>A	XP_016868700.1:p.Ser557=
XM_017013212.2:c.1635G>A	XP_016868701.1:p.Ser545=
XM_017013213.1:c.1383G>A	XP_016868702.1:p.Ser461=
XR_001745954.1:n.5008+40C>T
NM_000503.6:c.1734G>A MANE Select	NP_000494.2:p.Ser578=
NM_001288574.2:c.1716G>A	NP_001275503.1:p.Ser572=
NM_001288575.2:c.1368G>A	NP_001275504.1:p.Ser456=
NM_001370333.1:c.1821G>A	NP_001357262.1:p.Ser607=
NM_001370334.1:c.1734G>A	NP_001357263.1:p.Ser578=
NM_001370335.1:c.1734G>A	NP_001357264.1:p.Ser578=
NM_001370336.1:c.1713G>A	NP_001357265.1:p.Ser571=
NM_172058.4:c.1734G>A	NP_742055.1:p.Ser578=
NM_172059.5:c.1716G>A	NP_742056.2:p.Ser572=