Canonical Allele Identifier: CA461434117

Gene: EYA1

Linked Data

• gnomAD v4: 8-71216819-A-C
• MyVariant Identifiers: chr8:g.72129054A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216819A>C , CM000670.2:g.71216819A>C	GRCh38
NC_000008.10:g.72129054A>C , CM000670.1:g.72129054A>C	GRCh37
NC_000008.9:g.72291608A>C	NCBI36
NG_011735.2:g.150414T>G
NG_011735.3:g.336312T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1233T>G MANE Select	ENSP00000342626.3:p.Ala411=
ENST00000388741.7:c.1131T>G	ENSP00000373393.2:p.Ala377=
ENST00000419131.6:c.1128T>G	ENSP00000410176.1:p.Ala376=
ENST00000465115.6:c.*512T>G	ENSP00000428391.1:n.*512T>G
ENST00000493349.2:c.623T>G
ENST00000496494.6:n.1696T>G
ENST00000642391.1:c.*910T>G	ENSP00000496700.1:n.*910T>G
ENST00000643681.1:c.1320T>G	ENSP00000495390.1:p.Ala440=
ENST00000644229.1:c.1215T>G	ENSP00000494568.1:p.Ala405=
ENST00000644424.1:n.303T>G
ENST00000644712.1:c.1212T>G	ENSP00000496188.1:p.Ala404=
ENST00000645793.1:c.1233T>G	ENSP00000496255.1:p.Ala411=
ENST00000647540.1:c.1233T>G	ENSP00000494438.1:p.Ala411=
ENST00000303824.11:c.1215T>G	ENSP00000303221.7:p.Ala405=
ENST00000340726.7:c.1233T>G	ENSP00000342626.3:p.Ala411=
ENST00000388740.4:c.1134T>G	ENSP00000373392.3:p.Ala378=
ENST00000388741.6:c.1131T>G	ENSP00000373393.2:p.Ala377=
ENST00000388742.8:c.1233T>G	ENSP00000373394.4:p.Ala411=
ENST00000388743.6:c.1230T>G	ENSP00000373395.2:p.Ala410=
ENST00000419131.5:c.1128T>G	ENSP00000410176.1:p.Ala376=
ENST00000465115.5:c.*512T>G	ENSP00000428391.1:n.*512T>G
ENST00000493349.1:c.*178T>G	ENSP00000428517.1:n.*178T>G
ENST00000496494.5:n.1728T>G
NM_000503.5:c.1233T>G	NP_000494.2:p.Ala411=
NM_001288574.1:c.1215T>G	NP_001275503.1:p.Ala405=
NM_001288575.1:c.867T>G	NP_001275504.1:p.Ala289=
NM_172058.3:c.1233T>G	NP_742055.1:p.Ala411=
NM_172059.3:c.1128T>G	NP_742056.1:p.Ala376=
NM_172060.3:c.1134T>G	NP_742057.1:p.Ala378=
XM_011517481.1:c.1305T>G	XP_011515783.1:p.Ala435=
XM_011517482.1:c.1320T>G	XP_011515784.1:p.Ala440=
XM_011517483.1:c.1230T>G	XP_011515785.1:p.Ala410=
XM_011517484.1:c.1218T>G	XP_011515786.1:p.Ala406=
XM_011517485.1:c.1233T>G	XP_011515787.1:p.Ala411=
XM_011517486.1:c.1233T>G	XP_011515788.1:p.Ala411=
XM_011517487.1:c.1233T>G	XP_011515789.1:p.Ala411=
XM_011517488.1:c.1230T>G	XP_011515790.1:p.Ala410=
XM_011517489.1:c.1170T>G	XP_011515791.1:p.Ala390=
XM_011517490.1:c.1134T>G	XP_011515792.1:p.Ala378=
XM_011517491.1:c.1134T>G	XP_011515793.1:p.Ala378=
XM_011517492.1:c.882T>G	XP_011515794.1:p.Ala294=
NM_172059.4:c.1215T>G	NP_742056.2:p.Ala405=
XM_011517483.2:c.1230T>G	XP_011515785.1:p.Ala410=
XM_011517484.3:c.1305T>G	XP_011515786.2:p.Ala435=
XM_017013201.1:c.1320T>G	XP_016868690.1:p.Ala440=
XM_017013202.1:c.1320T>G	XP_016868691.1:p.Ala440=
XM_017013203.2:c.1317T>G	XP_016868692.1:p.Ala439=
XM_017013204.2:c.1302T>G	XP_016868693.1:p.Ala434=
XM_017013205.2:c.1320T>G	XP_016868694.1:p.Ala440=
XM_017013206.1:c.1233T>G	XP_016868695.1:p.Ala411=
XM_017013207.2:c.1230T>G	XP_016868696.1:p.Ala410=
XM_017013208.2:c.1230T>G	XP_016868697.1:p.Ala410=
XM_017013210.2:c.1212T>G	XP_016868699.1:p.Ala404=
XM_017013211.2:c.1170T>G	XP_016868700.1:p.Ala390=
XM_017013212.2:c.1134T>G	XP_016868701.1:p.Ala378=
XM_017013213.1:c.882T>G	XP_016868702.1:p.Ala294=
NM_000503.6:c.1233T>G MANE Select	NP_000494.2:p.Ala411=
NM_001288574.2:c.1215T>G	NP_001275503.1:p.Ala405=
NM_001288575.2:c.867T>G	NP_001275504.1:p.Ala289=
NM_001370333.1:c.1320T>G	NP_001357262.1:p.Ala440=
NM_001370334.1:c.1233T>G	NP_001357263.1:p.Ala411=
NM_001370335.1:c.1233T>G	NP_001357264.1:p.Ala411=
NM_001370336.1:c.1212T>G	NP_001357265.1:p.Ala404=
NM_172058.4:c.1233T>G	NP_742055.1:p.Ala411=
NM_172059.5:c.1215T>G	NP_742056.2:p.Ala405=