Canonical Allele Identifier: CA371466660

Gene: EYA1

Linked Data

• gnomAD v4: 8-71216735-T-A
• MyVariant Identifiers: chr8:g.72128970T>A (hg19) ; chr8:g.71216735T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216735T>A , CM000670.2:g.71216735T>A	GRCh38
NC_000008.10:g.72128970T>A , CM000670.1:g.72128970T>A	GRCh37
NC_000008.9:g.72291524T>A	NCBI36
NG_011735.2:g.150498A>T
NG_011735.3:g.336396A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1317A>T MANE Select	ENSP00000342626.3:p.Arg439Ser
ENST00000388741.7:c.1215A>T	ENSP00000373393.2:p.Arg405Ser
ENST00000419131.6:c.1212A>T	ENSP00000410176.1:p.Arg404Ser
ENST00000465115.6:c.*596A>T	ENSP00000428391.1:n.*596A>T
ENST00000493349.2:c.707A>T
ENST00000496494.6:n.1780A>T
ENST00000642391.1:c.*994A>T	ENSP00000496700.1:n.*994A>T
ENST00000643681.1:c.1404A>T	ENSP00000495390.1:p.Arg468Ser
ENST00000644229.1:c.1299A>T	ENSP00000494568.1:p.Arg433Ser
ENST00000644424.1:n.387A>T
ENST00000644712.1:c.1296A>T	ENSP00000496188.1:p.Arg432Ser
ENST00000645793.1:c.1317A>T	ENSP00000496255.1:p.Arg439Ser
ENST00000647540.1:c.1317A>T	ENSP00000494438.1:p.Arg439Ser
ENST00000303824.11:c.1299A>T	ENSP00000303221.7:p.Arg433Ser
ENST00000340726.7:c.1317A>T	ENSP00000342626.3:p.Arg439Ser
ENST00000388740.4:c.1218A>T	ENSP00000373392.3:p.Arg406Ser
ENST00000388741.6:c.1215A>T	ENSP00000373393.2:p.Arg405Ser
ENST00000388742.8:c.1317A>T	ENSP00000373394.4:p.Arg439Ser
ENST00000388743.6:c.1314A>T	ENSP00000373395.2:p.Arg438Ser
ENST00000419131.5:c.1212A>T	ENSP00000410176.1:p.Arg404Ser
ENST00000465115.5:c.*596A>T	ENSP00000428391.1:n.*596A>T
ENST00000493349.1:c.*262A>T	ENSP00000428517.1:n.*262A>T
ENST00000496494.5:n.1812A>T
NM_000503.5:c.1317A>T	NP_000494.2:p.Arg439Ser
NM_001288574.1:c.1299A>T	NP_001275503.1:p.Arg433Ser
NM_001288575.1:c.951A>T	NP_001275504.1:p.Arg317Ser
NM_172058.3:c.1317A>T	NP_742055.1:p.Arg439Ser
NM_172059.3:c.1212A>T	NP_742056.1:p.Arg404Ser
NM_172060.3:c.1218A>T	NP_742057.1:p.Arg406Ser
XM_011517481.1:c.1389A>T	XP_011515783.1:p.Arg463Ser
XM_011517482.1:c.1404A>T	XP_011515784.1:p.Arg468Ser
XM_011517483.1:c.1314A>T	XP_011515785.1:p.Arg438Ser
XM_011517484.1:c.1302A>T	XP_011515786.1:p.Arg434Ser
XM_011517485.1:c.1317A>T	XP_011515787.1:p.Arg439Ser
XM_011517486.1:c.1317A>T	XP_011515788.1:p.Arg439Ser
XM_011517487.1:c.1317A>T	XP_011515789.1:p.Arg439Ser
XM_011517488.1:c.1314A>T	XP_011515790.1:p.Arg438Ser
XM_011517489.1:c.1254A>T	XP_011515791.1:p.Arg418Ser
XM_011517490.1:c.1218A>T	XP_011515792.1:p.Arg406Ser
XM_011517491.1:c.1218A>T	XP_011515793.1:p.Arg406Ser
XM_011517492.1:c.966A>T	XP_011515794.1:p.Arg322Ser
NM_172059.4:c.1299A>T	NP_742056.2:p.Arg433Ser
XM_011517483.2:c.1314A>T	XP_011515785.1:p.Arg438Ser
XM_011517484.3:c.1389A>T	XP_011515786.2:p.Arg463Ser
XM_017013201.1:c.1404A>T	XP_016868690.1:p.Arg468Ser
XM_017013202.1:c.1404A>T	XP_016868691.1:p.Arg468Ser
XM_017013203.2:c.1401A>T	XP_016868692.1:p.Arg467Ser
XM_017013204.2:c.1386A>T	XP_016868693.1:p.Arg462Ser
XM_017013205.2:c.1404A>T	XP_016868694.1:p.Arg468Ser
XM_017013206.1:c.1317A>T	XP_016868695.1:p.Arg439Ser
XM_017013207.2:c.1314A>T	XP_016868696.1:p.Arg438Ser
XM_017013208.2:c.1314A>T	XP_016868697.1:p.Arg438Ser
XM_017013210.2:c.1296A>T	XP_016868699.1:p.Arg432Ser
XM_017013211.2:c.1254A>T	XP_016868700.1:p.Arg418Ser
XM_017013212.2:c.1218A>T	XP_016868701.1:p.Arg406Ser
XM_017013213.1:c.966A>T	XP_016868702.1:p.Arg322Ser
NM_000503.6:c.1317A>T MANE Select	NP_000494.2:p.Arg439Ser
NM_001288574.2:c.1299A>T	NP_001275503.1:p.Arg433Ser
NM_001288575.2:c.951A>T	NP_001275504.1:p.Arg317Ser
NM_001370333.1:c.1404A>T	NP_001357262.1:p.Arg468Ser
NM_001370334.1:c.1317A>T	NP_001357263.1:p.Arg439Ser
NM_001370335.1:c.1317A>T	NP_001357264.1:p.Arg439Ser
NM_001370336.1:c.1296A>T	NP_001357265.1:p.Arg432Ser
NM_172058.4:c.1317A>T	NP_742055.1:p.Arg439Ser
NM_172059.5:c.1299A>T	NP_742056.2:p.Arg433Ser