Canonical Allele Identifier: CA176082

Gene: EYA1

Linked Data

• ClinVar Variation Id: 163435
• ClinVar RCV Id: RCV000150676 ; RCV000291346 ; RCV000346226 ; RCV000991975 ; RCV002055970 ; RCV002498693 ; RCV003975174
• dbSNP Id: rs55972891
• ExAC: 8:72184119 G / T
• gnomAD v2: 8-72184119-G-T
• gnomAD v3: 8-71271884-G-T
• gnomAD v4: 8-71271884-G-T
• MyVariant Identifiers: chr8:g.72184119G>T (hg19) ; chr8:g.71271884G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71271884G>T , CM000670.2:g.71271884G>T	GRCh38
NC_000008.10:g.72184119G>T , CM000670.1:g.72184119G>T	GRCh37
NC_000008.9:g.72346673G>T	NCBI36
NG_011735.2:g.95349C>A
NG_011735.3:g.281247C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.840C>A MANE Select	ENSP00000342626.3:p.Ile280=
ENST00000388741.7:c.738C>A	ENSP00000373393.2:p.Ile246=
ENST00000419131.6:c.825C>A	ENSP00000410176.1:p.Ile275=
ENST00000465115.6:c.*119C>A	ENSP00000428391.1:n.*119C>A
ENST00000493349.2:c.76C>A
ENST00000496494.6:n.1303C>A
ENST00000642391.1:c.*607C>A	ENSP00000496700.1:n.*607C>A
ENST00000643681.1:c.927C>A	ENSP00000495390.1:p.Ile309=
ENST00000644229.1:c.912C>A	ENSP00000494568.1:p.Ile304=
ENST00000644712.1:c.909C>A	ENSP00000496188.1:p.Ile303=
ENST00000645793.1:c.840C>A	ENSP00000496255.1:p.Ile280=
ENST00000647540.1:c.840C>A	ENSP00000494438.1:p.Ile280=
ENST00000303824.11:c.822C>A	ENSP00000303221.7:p.Ile274=
ENST00000340726.7:c.840C>A	ENSP00000342626.3:p.Ile280=
ENST00000388740.4:c.741C>A	ENSP00000373392.3:p.Ile247=
ENST00000388741.6:c.738C>A	ENSP00000373393.2:p.Ile246=
ENST00000388742.8:c.840C>A	ENSP00000373394.4:p.Ile280=
ENST00000388743.6:c.837C>A	ENSP00000373395.2:p.Ile279=
ENST00000419131.5:c.825C>A	ENSP00000410176.1:p.Ile275=
ENST00000465115.5:c.*119C>A	ENSP00000428391.1:n.*119C>A
ENST00000493349.1:c.-244C>A	ENSP00000428517.1:n.-244C>A
ENST00000496494.5:n.1335C>A
NM_000503.5:c.840C>A	NP_000494.2:p.Ile280=
NM_001288574.1:c.822C>A	NP_001275503.1:p.Ile274=
NM_001288575.1:c.474C>A	NP_001275504.1:p.Ile158=
NM_172058.3:c.840C>A	NP_742055.1:p.Ile280=
NM_172059.3:c.825C>A	NP_742056.1:p.Ile275=
NM_172060.3:c.741C>A	NP_742057.1:p.Ile247=
XM_011517481.1:c.912C>A	XP_011515783.1:p.Ile304=
XM_011517482.1:c.927C>A	XP_011515784.1:p.Ile309=
XM_011517483.1:c.837C>A	XP_011515785.1:p.Ile279=
XM_011517484.1:c.825C>A	XP_011515786.1:p.Ile275=
XM_011517485.1:c.840C>A	XP_011515787.1:p.Ile280=
XM_011517486.1:c.840C>A	XP_011515788.1:p.Ile280=
XM_011517487.1:c.840C>A	XP_011515789.1:p.Ile280=
XM_011517488.1:c.837C>A	XP_011515790.1:p.Ile279=
XM_011517489.1:c.777C>A	XP_011515791.1:p.Ile259=
XM_011517490.1:c.741C>A	XP_011515792.1:p.Ile247=
XM_011517491.1:c.741C>A	XP_011515793.1:p.Ile247=
XM_011517492.1:c.489C>A	XP_011515794.1:p.Ile163=
NM_172059.4:c.912C>A	NP_742056.2:p.Ile304=
XM_011517483.2:c.837C>A	XP_011515785.1:p.Ile279=
XM_011517484.3:c.912C>A	XP_011515786.2:p.Ile304=
XM_017013201.1:c.927C>A	XP_016868690.1:p.Ile309=
XM_017013202.1:c.927C>A	XP_016868691.1:p.Ile309=
XM_017013203.2:c.924C>A	XP_016868692.1:p.Ile308=
XM_017013204.2:c.909C>A	XP_016868693.1:p.Ile303=
XM_017013205.2:c.927C>A	XP_016868694.1:p.Ile309=
XM_017013206.1:c.840C>A	XP_016868695.1:p.Ile280=
XM_017013207.2:c.927C>A	XP_016868696.1:p.Ile309=
XM_017013208.2:c.837C>A	XP_016868697.1:p.Ile279=
XM_017013210.2:c.909C>A	XP_016868699.1:p.Ile303=
XM_017013211.2:c.777C>A	XP_016868700.1:p.Ile259=
XM_017013212.2:c.741C>A	XP_016868701.1:p.Ile247=
XM_017013213.1:c.489C>A	XP_016868702.1:p.Ile163=
NM_000503.6:c.840C>A MANE Select	NP_000494.2:p.Ile280=
NM_001288574.2:c.822C>A	NP_001275503.1:p.Ile274=
NM_001288575.2:c.474C>A	NP_001275504.1:p.Ile158=
NM_001370333.1:c.927C>A	NP_001357262.1:p.Ile309=
NM_001370334.1:c.840C>A	NP_001357263.1:p.Ile280=
NM_001370335.1:c.840C>A	NP_001357264.1:p.Ile280=
NM_001370336.1:c.909C>A	NP_001357265.1:p.Ile303=
NM_172058.4:c.840C>A	NP_742055.1:p.Ile280=
NM_172059.5:c.912C>A	NP_742056.2:p.Ile304=