Canonical Allele Identifier: CA371465823

Gene: EYA1

Linked Data

• dbSNP Id: rs1471350873
• gnomAD v2: 8-72123399-C-T
• gnomAD v4: 8-71211164-C-T
• MyVariant Identifiers: chr8:g.72123399C>T (hg19) ; chr8:g.71211164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71211164C>T , CM000670.2:g.71211164C>T	GRCh38
NC_000008.10:g.72123399C>T , CM000670.1:g.72123399C>T	GRCh37
NC_000008.9:g.72285953C>T	NCBI36
NG_011735.2:g.156069G>A
NG_011735.3:g.341967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1690G>A MANE Select	ENSP00000342626.3:p.Ala564Thr
ENST00000388741.7:c.1588G>A	ENSP00000373393.2:p.Ala530Thr
ENST00000419131.6:c.1585G>A	ENSP00000410176.1:p.Ala529Thr
ENST00000465115.6:c.*969G>A	ENSP00000428391.1:n.*969G>A
ENST00000496494.6:n.2153G>A
ENST00000642391.1:c.*1367G>A	ENSP00000496700.1:n.*1367G>A
ENST00000643681.1:c.1777G>A	ENSP00000495390.1:p.Ala593Thr
ENST00000644229.1:c.1672G>A	ENSP00000494568.1:p.Ala558Thr
ENST00000644424.1:n.760G>A
ENST00000644712.1:c.1669G>A	ENSP00000496188.1:p.Ala557Thr
ENST00000645793.1:c.1690G>A	ENSP00000496255.1:p.Ala564Thr
ENST00000647540.1:c.1690G>A	ENSP00000494438.1:p.Ala564Thr
ENST00000303824.11:c.1672G>A	ENSP00000303221.7:p.Ala558Thr
ENST00000340726.7:c.1690G>A	ENSP00000342626.3:p.Ala564Thr
ENST00000388740.4:c.1591G>A	ENSP00000373392.3:p.Ala531Thr
ENST00000388741.6:c.1588G>A	ENSP00000373393.2:p.Ala530Thr
ENST00000388742.8:c.1690G>A	ENSP00000373394.4:p.Ala564Thr
ENST00000388743.6:c.1687G>A	ENSP00000373395.2:p.Ala563Thr
ENST00000419131.5:c.1585G>A	ENSP00000410176.1:p.Ala529Thr
ENST00000465115.5:c.*969G>A	ENSP00000428391.1:n.*969G>A
ENST00000496494.5:n.2185G>A
NM_000503.5:c.1690G>A	NP_000494.2:p.Ala564Thr
NM_001288574.1:c.1672G>A	NP_001275503.1:p.Ala558Thr
NM_001288575.1:c.1324G>A	NP_001275504.1:p.Ala442Thr
NM_172058.3:c.1690G>A	NP_742055.1:p.Ala564Thr
NM_172059.3:c.1585G>A	NP_742056.1:p.Ala529Thr
NM_172060.3:c.1591G>A	NP_742057.1:p.Ala531Thr
XM_011517481.1:c.1762G>A	XP_011515783.1:p.Ala588Thr
XM_011517482.1:c.1777G>A	XP_011515784.1:p.Ala593Thr
XM_011517483.1:c.1687G>A	XP_011515785.1:p.Ala563Thr
XM_011517484.1:c.1675G>A	XP_011515786.1:p.Ala559Thr
XM_011517485.1:c.1690G>A	XP_011515787.1:p.Ala564Thr
XM_011517486.1:c.1690G>A	XP_011515788.1:p.Ala564Thr
XM_011517487.1:c.1690G>A	XP_011515789.1:p.Ala564Thr
XM_011517488.1:c.1687G>A	XP_011515790.1:p.Ala563Thr
XM_011517489.1:c.1627G>A	XP_011515791.1:p.Ala543Thr
XM_011517490.1:c.1591G>A	XP_011515792.1:p.Ala531Thr
XM_011517491.1:c.1591G>A	XP_011515793.1:p.Ala531Thr
XM_011517492.1:c.1339G>A	XP_011515794.1:p.Ala447Thr
NM_172059.4:c.1672G>A	NP_742056.2:p.Ala558Thr
XM_011517483.2:c.1687G>A	XP_011515785.1:p.Ala563Thr
XM_011517484.3:c.1762G>A	XP_011515786.2:p.Ala588Thr
XM_017013201.1:c.1777G>A	XP_016868690.1:p.Ala593Thr
XM_017013202.1:c.1777G>A	XP_016868691.1:p.Ala593Thr
XM_017013203.2:c.1774G>A	XP_016868692.1:p.Ala592Thr
XM_017013204.2:c.1759G>A	XP_016868693.1:p.Ala587Thr
XM_017013205.2:c.1777G>A	XP_016868694.1:p.Ala593Thr
XM_017013206.1:c.1690G>A	XP_016868695.1:p.Ala564Thr
XM_017013207.2:c.1687G>A	XP_016868696.1:p.Ala563Thr
XM_017013208.2:c.1687G>A	XP_016868697.1:p.Ala563Thr
XM_017013210.2:c.1669G>A	XP_016868699.1:p.Ala557Thr
XM_017013211.2:c.1627G>A	XP_016868700.1:p.Ala543Thr
XM_017013212.2:c.1591G>A	XP_016868701.1:p.Ala531Thr
XM_017013213.1:c.1339G>A	XP_016868702.1:p.Ala447Thr
NM_000503.6:c.1690G>A MANE Select	NP_000494.2:p.Ala564Thr
NM_001288574.2:c.1672G>A	NP_001275503.1:p.Ala558Thr
NM_001288575.2:c.1324G>A	NP_001275504.1:p.Ala442Thr
NM_001370333.1:c.1777G>A	NP_001357262.1:p.Ala593Thr
NM_001370334.1:c.1690G>A	NP_001357263.1:p.Ala564Thr
NM_001370335.1:c.1690G>A	NP_001357264.1:p.Ala564Thr
NM_001370336.1:c.1669G>A	NP_001357265.1:p.Ala557Thr
NM_172058.4:c.1690G>A	NP_742055.1:p.Ala564Thr
NM_172059.5:c.1672G>A	NP_742056.2:p.Ala558Thr