Canonical Allele Identifier: CA371465835

Gene: EYA1

Linked Data

• COSMIC: COSM4470814 ; COSM4470815
• MyVariant Identifiers: chr8:g.72123405G>T (hg19) ; chr8:g.71211170G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71211170G>T , CM000670.2:g.71211170G>T	GRCh38
NC_000008.10:g.72123405G>T , CM000670.1:g.72123405G>T	GRCh37
NC_000008.9:g.72285959G>T	NCBI36
NG_011735.2:g.156063C>A
NG_011735.3:g.341961C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1684C>A MANE Select	ENSP00000342626.3:p.Gln562Lys
ENST00000388741.7:c.1582C>A	ENSP00000373393.2:p.Gln528Lys
ENST00000419131.6:c.1579C>A	ENSP00000410176.1:p.Gln527Lys
ENST00000465115.6:c.*963C>A	ENSP00000428391.1:n.*963C>A
ENST00000496494.6:n.2147C>A
ENST00000642391.1:c.*1361C>A	ENSP00000496700.1:n.*1361C>A
ENST00000643681.1:c.1771C>A	ENSP00000495390.1:p.Gln591Lys
ENST00000644229.1:c.1666C>A	ENSP00000494568.1:p.Gln556Lys
ENST00000644424.1:n.754C>A
ENST00000644712.1:c.1663C>A	ENSP00000496188.1:p.Gln555Lys
ENST00000645793.1:c.1684C>A	ENSP00000496255.1:p.Gln562Lys
ENST00000647540.1:c.1684C>A	ENSP00000494438.1:p.Gln562Lys
ENST00000303824.11:c.1666C>A	ENSP00000303221.7:p.Gln556Lys
ENST00000340726.7:c.1684C>A	ENSP00000342626.3:p.Gln562Lys
ENST00000388740.4:c.1585C>A	ENSP00000373392.3:p.Gln529Lys
ENST00000388741.6:c.1582C>A	ENSP00000373393.2:p.Gln528Lys
ENST00000388742.8:c.1684C>A	ENSP00000373394.4:p.Gln562Lys
ENST00000388743.6:c.1681C>A	ENSP00000373395.2:p.Gln561Lys
ENST00000419131.5:c.1579C>A	ENSP00000410176.1:p.Gln527Lys
ENST00000465115.5:c.*963C>A	ENSP00000428391.1:n.*963C>A
ENST00000496494.5:n.2179C>A
NM_000503.5:c.1684C>A	NP_000494.2:p.Gln562Lys
NM_001288574.1:c.1666C>A	NP_001275503.1:p.Gln556Lys
NM_001288575.1:c.1318C>A	NP_001275504.1:p.Gln440Lys
NM_172058.3:c.1684C>A	NP_742055.1:p.Gln562Lys
NM_172059.3:c.1579C>A	NP_742056.1:p.Gln527Lys
NM_172060.3:c.1585C>A	NP_742057.1:p.Gln529Lys
XM_011517481.1:c.1756C>A	XP_011515783.1:p.Gln586Lys
XM_011517482.1:c.1771C>A	XP_011515784.1:p.Gln591Lys
XM_011517483.1:c.1681C>A	XP_011515785.1:p.Gln561Lys
XM_011517484.1:c.1669C>A	XP_011515786.1:p.Gln557Lys
XM_011517485.1:c.1684C>A	XP_011515787.1:p.Gln562Lys
XM_011517486.1:c.1684C>A	XP_011515788.1:p.Gln562Lys
XM_011517487.1:c.1684C>A	XP_011515789.1:p.Gln562Lys
XM_011517488.1:c.1681C>A	XP_011515790.1:p.Gln561Lys
XM_011517489.1:c.1621C>A	XP_011515791.1:p.Gln541Lys
XM_011517490.1:c.1585C>A	XP_011515792.1:p.Gln529Lys
XM_011517491.1:c.1585C>A	XP_011515793.1:p.Gln529Lys
XM_011517492.1:c.1333C>A	XP_011515794.1:p.Gln445Lys
NM_172059.4:c.1666C>A	NP_742056.2:p.Gln556Lys
XM_011517483.2:c.1681C>A	XP_011515785.1:p.Gln561Lys
XM_011517484.3:c.1756C>A	XP_011515786.2:p.Gln586Lys
XM_017013201.1:c.1771C>A	XP_016868690.1:p.Gln591Lys
XM_017013202.1:c.1771C>A	XP_016868691.1:p.Gln591Lys
XM_017013203.2:c.1768C>A	XP_016868692.1:p.Gln590Lys
XM_017013204.2:c.1753C>A	XP_016868693.1:p.Gln585Lys
XM_017013205.2:c.1771C>A	XP_016868694.1:p.Gln591Lys
XM_017013206.1:c.1684C>A	XP_016868695.1:p.Gln562Lys
XM_017013207.2:c.1681C>A	XP_016868696.1:p.Gln561Lys
XM_017013208.2:c.1681C>A	XP_016868697.1:p.Gln561Lys
XM_017013210.2:c.1663C>A	XP_016868699.1:p.Gln555Lys
XM_017013211.2:c.1621C>A	XP_016868700.1:p.Gln541Lys
XM_017013212.2:c.1585C>A	XP_016868701.1:p.Gln529Lys
XM_017013213.1:c.1333C>A	XP_016868702.1:p.Gln445Lys
NM_000503.6:c.1684C>A MANE Select	NP_000494.2:p.Gln562Lys
NM_001288574.2:c.1666C>A	NP_001275503.1:p.Gln556Lys
NM_001288575.2:c.1318C>A	NP_001275504.1:p.Gln440Lys
NM_001370333.1:c.1771C>A	NP_001357262.1:p.Gln591Lys
NM_001370334.1:c.1684C>A	NP_001357263.1:p.Gln562Lys
NM_001370335.1:c.1684C>A	NP_001357264.1:p.Gln562Lys
NM_001370336.1:c.1663C>A	NP_001357265.1:p.Gln555Lys
NM_172058.4:c.1684C>A	NP_742055.1:p.Gln562Lys
NM_172059.5:c.1666C>A	NP_742056.2:p.Gln556Lys