Canonical Allele Identifier: CA371466814

Gene: EYA1

Linked Data

• gnomAD v4: 8-71216809-T-C
• MyVariant Identifiers: chr8:g.72129044T>C (hg19) ; chr8:g.71216809T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216809T>C , CM000670.2:g.71216809T>C	GRCh38
NC_000008.10:g.72129044T>C , CM000670.1:g.72129044T>C	GRCh37
NC_000008.9:g.72291598T>C	NCBI36
NG_011735.2:g.150424A>G
NG_011735.3:g.336322A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1243A>G MANE Select	ENSP00000342626.3:p.Ser415Gly
ENST00000388741.7:c.1141A>G	ENSP00000373393.2:p.Ser381Gly
ENST00000419131.6:c.1138A>G	ENSP00000410176.1:p.Ser380Gly
ENST00000465115.6:c.*522A>G	ENSP00000428391.1:n.*522A>G
ENST00000493349.2:c.633A>G
ENST00000496494.6:n.1706A>G
ENST00000642391.1:c.*920A>G	ENSP00000496700.1:n.*920A>G
ENST00000643681.1:c.1330A>G	ENSP00000495390.1:p.Ser444Gly
ENST00000644229.1:c.1225A>G	ENSP00000494568.1:p.Ser409Gly
ENST00000644424.1:n.313A>G
ENST00000644712.1:c.1222A>G	ENSP00000496188.1:p.Ser408Gly
ENST00000645793.1:c.1243A>G	ENSP00000496255.1:p.Ser415Gly
ENST00000647540.1:c.1243A>G	ENSP00000494438.1:p.Ser415Gly
ENST00000303824.11:c.1225A>G	ENSP00000303221.7:p.Ser409Gly
ENST00000340726.7:c.1243A>G	ENSP00000342626.3:p.Ser415Gly
ENST00000388740.4:c.1144A>G	ENSP00000373392.3:p.Ser382Gly
ENST00000388741.6:c.1141A>G	ENSP00000373393.2:p.Ser381Gly
ENST00000388742.8:c.1243A>G	ENSP00000373394.4:p.Ser415Gly
ENST00000388743.6:c.1240A>G	ENSP00000373395.2:p.Ser414Gly
ENST00000419131.5:c.1138A>G	ENSP00000410176.1:p.Ser380Gly
ENST00000465115.5:c.*522A>G	ENSP00000428391.1:n.*522A>G
ENST00000493349.1:c.*188A>G	ENSP00000428517.1:n.*188A>G
ENST00000496494.5:n.1738A>G
NM_000503.5:c.1243A>G	NP_000494.2:p.Ser415Gly
NM_001288574.1:c.1225A>G	NP_001275503.1:p.Ser409Gly
NM_001288575.1:c.877A>G	NP_001275504.1:p.Ser293Gly
NM_172058.3:c.1243A>G	NP_742055.1:p.Ser415Gly
NM_172059.3:c.1138A>G	NP_742056.1:p.Ser380Gly
NM_172060.3:c.1144A>G	NP_742057.1:p.Ser382Gly
XM_011517481.1:c.1315A>G	XP_011515783.1:p.Ser439Gly
XM_011517482.1:c.1330A>G	XP_011515784.1:p.Ser444Gly
XM_011517483.1:c.1240A>G	XP_011515785.1:p.Ser414Gly
XM_011517484.1:c.1228A>G	XP_011515786.1:p.Ser410Gly
XM_011517485.1:c.1243A>G	XP_011515787.1:p.Ser415Gly
XM_011517486.1:c.1243A>G	XP_011515788.1:p.Ser415Gly
XM_011517487.1:c.1243A>G	XP_011515789.1:p.Ser415Gly
XM_011517488.1:c.1240A>G	XP_011515790.1:p.Ser414Gly
XM_011517489.1:c.1180A>G	XP_011515791.1:p.Ser394Gly
XM_011517490.1:c.1144A>G	XP_011515792.1:p.Ser382Gly
XM_011517491.1:c.1144A>G	XP_011515793.1:p.Ser382Gly
XM_011517492.1:c.892A>G	XP_011515794.1:p.Ser298Gly
NM_172059.4:c.1225A>G	NP_742056.2:p.Ser409Gly
XM_011517483.2:c.1240A>G	XP_011515785.1:p.Ser414Gly
XM_011517484.3:c.1315A>G	XP_011515786.2:p.Ser439Gly
XM_017013201.1:c.1330A>G	XP_016868690.1:p.Ser444Gly
XM_017013202.1:c.1330A>G	XP_016868691.1:p.Ser444Gly
XM_017013203.2:c.1327A>G	XP_016868692.1:p.Ser443Gly
XM_017013204.2:c.1312A>G	XP_016868693.1:p.Ser438Gly
XM_017013205.2:c.1330A>G	XP_016868694.1:p.Ser444Gly
XM_017013206.1:c.1243A>G	XP_016868695.1:p.Ser415Gly
XM_017013207.2:c.1240A>G	XP_016868696.1:p.Ser414Gly
XM_017013208.2:c.1240A>G	XP_016868697.1:p.Ser414Gly
XM_017013210.2:c.1222A>G	XP_016868699.1:p.Ser408Gly
XM_017013211.2:c.1180A>G	XP_016868700.1:p.Ser394Gly
XM_017013212.2:c.1144A>G	XP_016868701.1:p.Ser382Gly
XM_017013213.1:c.892A>G	XP_016868702.1:p.Ser298Gly
NM_000503.6:c.1243A>G MANE Select	NP_000494.2:p.Ser415Gly
NM_001288574.2:c.1225A>G	NP_001275503.1:p.Ser409Gly
NM_001288575.2:c.877A>G	NP_001275504.1:p.Ser293Gly
NM_001370333.1:c.1330A>G	NP_001357262.1:p.Ser444Gly
NM_001370334.1:c.1243A>G	NP_001357263.1:p.Ser415Gly
NM_001370335.1:c.1243A>G	NP_001357264.1:p.Ser415Gly
NM_001370336.1:c.1222A>G	NP_001357265.1:p.Ser408Gly
NM_172058.4:c.1243A>G	NP_742055.1:p.Ser415Gly
NM_172059.5:c.1225A>G	NP_742056.2:p.Ser409Gly