Canonical Allele Identifier: CA371466816

Gene: EYA1

Linked Data

• MyVariant Identifiers: chr8:g.72129046G>A (hg19) ; chr8:g.71216811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216811G>A , CM000670.2:g.71216811G>A	GRCh38
NC_000008.10:g.72129046G>A , CM000670.1:g.72129046G>A	GRCh37
NC_000008.9:g.72291600G>A	NCBI36
NG_011735.2:g.150422C>T
NG_011735.3:g.336320C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1241C>T MANE Select	ENSP00000342626.3:p.Thr414Ile
ENST00000388741.7:c.1139C>T	ENSP00000373393.2:p.Thr380Ile
ENST00000419131.6:c.1136C>T	ENSP00000410176.1:p.Thr379Ile
ENST00000465115.6:c.*520C>T	ENSP00000428391.1:n.*520C>T
ENST00000493349.2:c.631C>T
ENST00000496494.6:n.1704C>T
ENST00000642391.1:c.*918C>T	ENSP00000496700.1:n.*918C>T
ENST00000643681.1:c.1328C>T	ENSP00000495390.1:p.Thr443Ile
ENST00000644229.1:c.1223C>T	ENSP00000494568.1:p.Thr408Ile
ENST00000644424.1:n.311C>T
ENST00000644712.1:c.1220C>T	ENSP00000496188.1:p.Thr407Ile
ENST00000645793.1:c.1241C>T	ENSP00000496255.1:p.Thr414Ile
ENST00000647540.1:c.1241C>T	ENSP00000494438.1:p.Thr414Ile
ENST00000303824.11:c.1223C>T	ENSP00000303221.7:p.Thr408Ile
ENST00000340726.7:c.1241C>T	ENSP00000342626.3:p.Thr414Ile
ENST00000388740.4:c.1142C>T	ENSP00000373392.3:p.Thr381Ile
ENST00000388741.6:c.1139C>T	ENSP00000373393.2:p.Thr380Ile
ENST00000388742.8:c.1241C>T	ENSP00000373394.4:p.Thr414Ile
ENST00000388743.6:c.1238C>T	ENSP00000373395.2:p.Thr413Ile
ENST00000419131.5:c.1136C>T	ENSP00000410176.1:p.Thr379Ile
ENST00000465115.5:c.*520C>T	ENSP00000428391.1:n.*520C>T
ENST00000493349.1:c.*186C>T	ENSP00000428517.1:n.*186C>T
ENST00000496494.5:n.1736C>T
NM_000503.5:c.1241C>T	NP_000494.2:p.Thr414Ile
NM_001288574.1:c.1223C>T	NP_001275503.1:p.Thr408Ile
NM_001288575.1:c.875C>T	NP_001275504.1:p.Thr292Ile
NM_172058.3:c.1241C>T	NP_742055.1:p.Thr414Ile
NM_172059.3:c.1136C>T	NP_742056.1:p.Thr379Ile
NM_172060.3:c.1142C>T	NP_742057.1:p.Thr381Ile
XM_011517481.1:c.1313C>T	XP_011515783.1:p.Thr438Ile
XM_011517482.1:c.1328C>T	XP_011515784.1:p.Thr443Ile
XM_011517483.1:c.1238C>T	XP_011515785.1:p.Thr413Ile
XM_011517484.1:c.1226C>T	XP_011515786.1:p.Thr409Ile
XM_011517485.1:c.1241C>T	XP_011515787.1:p.Thr414Ile
XM_011517486.1:c.1241C>T	XP_011515788.1:p.Thr414Ile
XM_011517487.1:c.1241C>T	XP_011515789.1:p.Thr414Ile
XM_011517488.1:c.1238C>T	XP_011515790.1:p.Thr413Ile
XM_011517489.1:c.1178C>T	XP_011515791.1:p.Thr393Ile
XM_011517490.1:c.1142C>T	XP_011515792.1:p.Thr381Ile
XM_011517491.1:c.1142C>T	XP_011515793.1:p.Thr381Ile
XM_011517492.1:c.890C>T	XP_011515794.1:p.Thr297Ile
NM_172059.4:c.1223C>T	NP_742056.2:p.Thr408Ile
XM_011517483.2:c.1238C>T	XP_011515785.1:p.Thr413Ile
XM_011517484.3:c.1313C>T	XP_011515786.2:p.Thr438Ile
XM_017013201.1:c.1328C>T	XP_016868690.1:p.Thr443Ile
XM_017013202.1:c.1328C>T	XP_016868691.1:p.Thr443Ile
XM_017013203.2:c.1325C>T	XP_016868692.1:p.Thr442Ile
XM_017013204.2:c.1310C>T	XP_016868693.1:p.Thr437Ile
XM_017013205.2:c.1328C>T	XP_016868694.1:p.Thr443Ile
XM_017013206.1:c.1241C>T	XP_016868695.1:p.Thr414Ile
XM_017013207.2:c.1238C>T	XP_016868696.1:p.Thr413Ile
XM_017013208.2:c.1238C>T	XP_016868697.1:p.Thr413Ile
XM_017013210.2:c.1220C>T	XP_016868699.1:p.Thr407Ile
XM_017013211.2:c.1178C>T	XP_016868700.1:p.Thr393Ile
XM_017013212.2:c.1142C>T	XP_016868701.1:p.Thr381Ile
XM_017013213.1:c.890C>T	XP_016868702.1:p.Thr297Ile
NM_000503.6:c.1241C>T MANE Select	NP_000494.2:p.Thr414Ile
NM_001288574.2:c.1223C>T	NP_001275503.1:p.Thr408Ile
NM_001288575.2:c.875C>T	NP_001275504.1:p.Thr292Ile
NM_001370333.1:c.1328C>T	NP_001357262.1:p.Thr443Ile
NM_001370334.1:c.1241C>T	NP_001357263.1:p.Thr414Ile
NM_001370335.1:c.1241C>T	NP_001357264.1:p.Thr414Ile
NM_001370336.1:c.1220C>T	NP_001357265.1:p.Thr407Ile
NM_172058.4:c.1241C>T	NP_742055.1:p.Thr414Ile
NM_172059.5:c.1223C>T	NP_742056.2:p.Thr408Ile