Canonical Allele Identifier: CA371467256

Gene: EYA1

Linked Data

• MyVariant Identifiers: chr8:g.72211372T>A (hg19) ; chr8:g.71299137T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71299137T>A , CM000670.2:g.71299137T>A	GRCh38
NC_000008.10:g.72211372T>A , CM000670.1:g.72211372T>A	GRCh37
NC_000008.9:g.72373926T>A	NCBI36
NG_011735.2:g.68096A>T
NG_011735.3:g.253994A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.736A>T MANE Select	ENSP00000342626.3:p.Ser246Cys
ENST00000388741.7:c.634A>T	ENSP00000373393.2:p.Ser212Cys
ENST00000419131.6:c.721A>T	ENSP00000410176.1:p.Ser241Cys
ENST00000465115.6:c.*15A>T	ENSP00000428391.1:n.*15A>T
ENST00000496494.6:n.1199A>T
ENST00000642391.1:c.*503A>T	ENSP00000496700.1:n.*503A>T
ENST00000643681.1:c.823A>T	ENSP00000495390.1:p.Ser275Cys
ENST00000644229.1:c.808A>T	ENSP00000494568.1:p.Ser270Cys
ENST00000644712.1:c.805A>T	ENSP00000496188.1:p.Ser269Cys
ENST00000645793.1:c.736A>T	ENSP00000496255.1:p.Ser246Cys
ENST00000647540.1:c.736A>T	ENSP00000494438.1:p.Ser246Cys
ENST00000303824.11:c.718A>T	ENSP00000303221.7:p.Ser240Cys
ENST00000340726.7:c.736A>T	ENSP00000342626.3:p.Ser246Cys
ENST00000388740.4:c.637A>T	ENSP00000373392.3:p.Ser213Cys
ENST00000388741.6:c.634A>T	ENSP00000373393.2:p.Ser212Cys
ENST00000388742.8:c.736A>T	ENSP00000373394.4:p.Ser246Cys
ENST00000388743.6:c.733A>T	ENSP00000373395.2:p.Ser245Cys
ENST00000419131.5:c.721A>T	ENSP00000410176.1:p.Ser241Cys
ENST00000465115.5:c.*15A>T	ENSP00000428391.1:n.*15A>T
ENST00000496494.5:n.1231A>T
NM_000503.5:c.736A>T	NP_000494.2:p.Ser246Cys
NM_001288574.1:c.718A>T	NP_001275503.1:p.Ser240Cys
NM_001288575.1:c.370A>T	NP_001275504.1:p.Ser124Cys
NM_172058.3:c.736A>T	NP_742055.1:p.Ser246Cys
NM_172059.3:c.721A>T	NP_742056.1:p.Ser241Cys
NM_172060.3:c.637A>T	NP_742057.1:p.Ser213Cys
XM_011517481.1:c.808A>T	XP_011515783.1:p.Ser270Cys
XM_011517482.1:c.823A>T	XP_011515784.1:p.Ser275Cys
XM_011517483.1:c.733A>T	XP_011515785.1:p.Ser245Cys
XM_011517484.1:c.721A>T	XP_011515786.1:p.Ser241Cys
XM_011517485.1:c.736A>T	XP_011515787.1:p.Ser246Cys
XM_011517486.1:c.736A>T	XP_011515788.1:p.Ser246Cys
XM_011517487.1:c.736A>T	XP_011515789.1:p.Ser246Cys
XM_011517488.1:c.733A>T	XP_011515790.1:p.Ser245Cys
XM_011517489.1:c.673A>T	XP_011515791.1:p.Ser225Cys
XM_011517490.1:c.637A>T	XP_011515792.1:p.Ser213Cys
XM_011517491.1:c.637A>T	XP_011515793.1:p.Ser213Cys
XM_011517492.1:c.385A>T	XP_011515794.1:p.Ser129Cys
NM_172059.4:c.808A>T	NP_742056.2:p.Ser270Cys
XM_011517483.2:c.733A>T	XP_011515785.1:p.Ser245Cys
XM_011517484.3:c.808A>T	XP_011515786.2:p.Ser270Cys
XM_017013201.1:c.823A>T	XP_016868690.1:p.Ser275Cys
XM_017013202.1:c.823A>T	XP_016868691.1:p.Ser275Cys
XM_017013203.2:c.820A>T	XP_016868692.1:p.Ser274Cys
XM_017013204.2:c.805A>T	XP_016868693.1:p.Ser269Cys
XM_017013205.2:c.823A>T	XP_016868694.1:p.Ser275Cys
XM_017013206.1:c.736A>T	XP_016868695.1:p.Ser246Cys
XM_017013207.2:c.823A>T	XP_016868696.1:p.Ser275Cys
XM_017013208.2:c.733A>T	XP_016868697.1:p.Ser245Cys
XM_017013210.2:c.805A>T	XP_016868699.1:p.Ser269Cys
XM_017013211.2:c.673A>T	XP_016868700.1:p.Ser225Cys
XM_017013212.2:c.637A>T	XP_016868701.1:p.Ser213Cys
XM_017013213.1:c.385A>T	XP_016868702.1:p.Ser129Cys
NM_000503.6:c.736A>T MANE Select	NP_000494.2:p.Ser246Cys
NM_001288574.2:c.718A>T	NP_001275503.1:p.Ser240Cys
NM_001288575.2:c.370A>T	NP_001275504.1:p.Ser124Cys
NM_001370333.1:c.823A>T	NP_001357262.1:p.Ser275Cys
NM_001370334.1:c.736A>T	NP_001357263.1:p.Ser246Cys
NM_001370335.1:c.736A>T	NP_001357264.1:p.Ser246Cys
NM_001370336.1:c.805A>T	NP_001357265.1:p.Ser269Cys
NM_172058.4:c.736A>T	NP_742055.1:p.Ser246Cys
NM_172059.5:c.808A>T	NP_742056.2:p.Ser270Cys