Canonical Allele Identifier: CA371466665

Gene: EYA1

Linked Data

• gnomAD v3: 8-71216737-T-A
• gnomAD v4: 8-71216737-T-A
• MyVariant Identifiers: chr8:g.72128972T>A (hg19) ; chr8:g.71216737T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216737T>A , CM000670.2:g.71216737T>A	GRCh38
NC_000008.10:g.72128972T>A , CM000670.1:g.72128972T>A	GRCh37
NC_000008.9:g.72291526T>A	NCBI36
NG_011735.2:g.150496A>T
NG_011735.3:g.336394A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1315A>T MANE Select	ENSP00000342626.3:p.Arg439Ter
ENST00000388741.7:c.1213A>T	ENSP00000373393.2:p.Arg405Ter
ENST00000419131.6:c.1210A>T	ENSP00000410176.1:p.Arg404Ter
ENST00000465115.6:c.*594A>T	ENSP00000428391.1:n.*594A>T
ENST00000493349.2:c.705A>T
ENST00000496494.6:n.1778A>T
ENST00000642391.1:c.*992A>T	ENSP00000496700.1:n.*992A>T
ENST00000643681.1:c.1402A>T	ENSP00000495390.1:p.Arg468Ter
ENST00000644229.1:c.1297A>T	ENSP00000494568.1:p.Arg433Ter
ENST00000644424.1:n.385A>T
ENST00000644712.1:c.1294A>T	ENSP00000496188.1:p.Arg432Ter
ENST00000645793.1:c.1315A>T	ENSP00000496255.1:p.Arg439Ter
ENST00000647540.1:c.1315A>T	ENSP00000494438.1:p.Arg439Ter
ENST00000303824.11:c.1297A>T	ENSP00000303221.7:p.Arg433Ter
ENST00000340726.7:c.1315A>T	ENSP00000342626.3:p.Arg439Ter
ENST00000388740.4:c.1216A>T	ENSP00000373392.3:p.Arg406Ter
ENST00000388741.6:c.1213A>T	ENSP00000373393.2:p.Arg405Ter
ENST00000388742.8:c.1315A>T	ENSP00000373394.4:p.Arg439Ter
ENST00000388743.6:c.1312A>T	ENSP00000373395.2:p.Arg438Ter
ENST00000419131.5:c.1210A>T	ENSP00000410176.1:p.Arg404Ter
ENST00000465115.5:c.*594A>T	ENSP00000428391.1:n.*594A>T
ENST00000493349.1:c.*260A>T	ENSP00000428517.1:n.*260A>T
ENST00000496494.5:n.1810A>T
NM_000503.5:c.1315A>T	NP_000494.2:p.Arg439Ter
NM_001288574.1:c.1297A>T	NP_001275503.1:p.Arg433Ter
NM_001288575.1:c.949A>T	NP_001275504.1:p.Arg317Ter
NM_172058.3:c.1315A>T	NP_742055.1:p.Arg439Ter
NM_172059.3:c.1210A>T	NP_742056.1:p.Arg404Ter
NM_172060.3:c.1216A>T	NP_742057.1:p.Arg406Ter
XM_011517481.1:c.1387A>T	XP_011515783.1:p.Arg463Ter
XM_011517482.1:c.1402A>T	XP_011515784.1:p.Arg468Ter
XM_011517483.1:c.1312A>T	XP_011515785.1:p.Arg438Ter
XM_011517484.1:c.1300A>T	XP_011515786.1:p.Arg434Ter
XM_011517485.1:c.1315A>T	XP_011515787.1:p.Arg439Ter
XM_011517486.1:c.1315A>T	XP_011515788.1:p.Arg439Ter
XM_011517487.1:c.1315A>T	XP_011515789.1:p.Arg439Ter
XM_011517488.1:c.1312A>T	XP_011515790.1:p.Arg438Ter
XM_011517489.1:c.1252A>T	XP_011515791.1:p.Arg418Ter
XM_011517490.1:c.1216A>T	XP_011515792.1:p.Arg406Ter
XM_011517491.1:c.1216A>T	XP_011515793.1:p.Arg406Ter
XM_011517492.1:c.964A>T	XP_011515794.1:p.Arg322Ter
NM_172059.4:c.1297A>T	NP_742056.2:p.Arg433Ter
XM_011517483.2:c.1312A>T	XP_011515785.1:p.Arg438Ter
XM_011517484.3:c.1387A>T	XP_011515786.2:p.Arg463Ter
XM_017013201.1:c.1402A>T	XP_016868690.1:p.Arg468Ter
XM_017013202.1:c.1402A>T	XP_016868691.1:p.Arg468Ter
XM_017013203.2:c.1399A>T	XP_016868692.1:p.Arg467Ter
XM_017013204.2:c.1384A>T	XP_016868693.1:p.Arg462Ter
XM_017013205.2:c.1402A>T	XP_016868694.1:p.Arg468Ter
XM_017013206.1:c.1315A>T	XP_016868695.1:p.Arg439Ter
XM_017013207.2:c.1312A>T	XP_016868696.1:p.Arg438Ter
XM_017013208.2:c.1312A>T	XP_016868697.1:p.Arg438Ter
XM_017013210.2:c.1294A>T	XP_016868699.1:p.Arg432Ter
XM_017013211.2:c.1252A>T	XP_016868700.1:p.Arg418Ter
XM_017013212.2:c.1216A>T	XP_016868701.1:p.Arg406Ter
XM_017013213.1:c.964A>T	XP_016868702.1:p.Arg322Ter
NM_000503.6:c.1315A>T MANE Select	NP_000494.2:p.Arg439Ter
NM_001288574.2:c.1297A>T	NP_001275503.1:p.Arg433Ter
NM_001288575.2:c.949A>T	NP_001275504.1:p.Arg317Ter
NM_001370333.1:c.1402A>T	NP_001357262.1:p.Arg468Ter
NM_001370334.1:c.1315A>T	NP_001357263.1:p.Arg439Ter
NM_001370335.1:c.1315A>T	NP_001357264.1:p.Arg439Ter
NM_001370336.1:c.1294A>T	NP_001357265.1:p.Arg432Ter
NM_172058.4:c.1315A>T	NP_742055.1:p.Arg439Ter
NM_172059.5:c.1297A>T	NP_742056.2:p.Arg433Ter