Canonical Allele Identifier: CA461323701

Gene: EYA1

Linked Data

• MyVariant Identifiers: chr8:g.72123450T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71211215T>G , CM000670.2:g.71211215T>G	GRCh38
NC_000008.10:g.72123450T>G , CM000670.1:g.72123450T>G	GRCh37
NC_000008.9:g.72286004T>G	NCBI36
NG_011735.2:g.156018A>C
NG_011735.3:g.341916A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1639A>C MANE Select	ENSP00000342626.3:p.Arg547=
ENST00000388741.7:c.1537A>C	ENSP00000373393.2:p.Arg513=
ENST00000419131.6:c.1534A>C	ENSP00000410176.1:p.Arg512=
ENST00000465115.6:c.*918A>C	ENSP00000428391.1:n.*918A>C
ENST00000496494.6:n.2102A>C
ENST00000642391.1:c.*1316A>C	ENSP00000496700.1:n.*1316A>C
ENST00000643681.1:c.1726A>C	ENSP00000495390.1:p.Arg576=
ENST00000644229.1:c.1621A>C	ENSP00000494568.1:p.Arg541=
ENST00000644424.1:n.709A>C
ENST00000644712.1:c.1618A>C	ENSP00000496188.1:p.Arg540=
ENST00000645793.1:c.1639A>C	ENSP00000496255.1:p.Arg547=
ENST00000647540.1:c.1639A>C	ENSP00000494438.1:p.Arg547=
ENST00000303824.11:c.1621A>C	ENSP00000303221.7:p.Arg541=
ENST00000340726.7:c.1639A>C	ENSP00000342626.3:p.Arg547=
ENST00000388740.4:c.1540A>C	ENSP00000373392.3:p.Arg514=
ENST00000388741.6:c.1537A>C	ENSP00000373393.2:p.Arg513=
ENST00000388742.8:c.1639A>C	ENSP00000373394.4:p.Arg547=
ENST00000388743.6:c.1636A>C	ENSP00000373395.2:p.Arg546=
ENST00000419131.5:c.1534A>C	ENSP00000410176.1:p.Arg512=
ENST00000465115.5:c.*918A>C	ENSP00000428391.1:n.*918A>C
ENST00000496494.5:n.2134A>C
NM_000503.5:c.1639A>C	NP_000494.2:p.Arg547=
NM_001288574.1:c.1621A>C	NP_001275503.1:p.Arg541=
NM_001288575.1:c.1273A>C	NP_001275504.1:p.Arg425=
NM_172058.3:c.1639A>C	NP_742055.1:p.Arg547=
NM_172059.3:c.1534A>C	NP_742056.1:p.Arg512=
NM_172060.3:c.1540A>C	NP_742057.1:p.Arg514=
XM_011517481.1:c.1711A>C	XP_011515783.1:p.Arg571=
XM_011517482.1:c.1726A>C	XP_011515784.1:p.Arg576=
XM_011517483.1:c.1636A>C	XP_011515785.1:p.Arg546=
XM_011517484.1:c.1624A>C	XP_011515786.1:p.Arg542=
XM_011517485.1:c.1639A>C	XP_011515787.1:p.Arg547=
XM_011517486.1:c.1639A>C	XP_011515788.1:p.Arg547=
XM_011517487.1:c.1639A>C	XP_011515789.1:p.Arg547=
XM_011517488.1:c.1636A>C	XP_011515790.1:p.Arg546=
XM_011517489.1:c.1576A>C	XP_011515791.1:p.Arg526=
XM_011517490.1:c.1540A>C	XP_011515792.1:p.Arg514=
XM_011517491.1:c.1540A>C	XP_011515793.1:p.Arg514=
XM_011517492.1:c.1288A>C	XP_011515794.1:p.Arg430=
NM_172059.4:c.1621A>C	NP_742056.2:p.Arg541=
XM_011517483.2:c.1636A>C	XP_011515785.1:p.Arg546=
XM_011517484.3:c.1711A>C	XP_011515786.2:p.Arg571=
XM_017013201.1:c.1726A>C	XP_016868690.1:p.Arg576=
XM_017013202.1:c.1726A>C	XP_016868691.1:p.Arg576=
XM_017013203.2:c.1723A>C	XP_016868692.1:p.Arg575=
XM_017013204.2:c.1708A>C	XP_016868693.1:p.Arg570=
XM_017013205.2:c.1726A>C	XP_016868694.1:p.Arg576=
XM_017013206.1:c.1639A>C	XP_016868695.1:p.Arg547=
XM_017013207.2:c.1636A>C	XP_016868696.1:p.Arg546=
XM_017013208.2:c.1636A>C	XP_016868697.1:p.Arg546=
XM_017013210.2:c.1618A>C	XP_016868699.1:p.Arg540=
XM_017013211.2:c.1576A>C	XP_016868700.1:p.Arg526=
XM_017013212.2:c.1540A>C	XP_016868701.1:p.Arg514=
XM_017013213.1:c.1288A>C	XP_016868702.1:p.Arg430=
NM_000503.6:c.1639A>C MANE Select	NP_000494.2:p.Arg547=
NM_001288574.2:c.1621A>C	NP_001275503.1:p.Arg541=
NM_001288575.2:c.1273A>C	NP_001275504.1:p.Arg425=
NM_001370333.1:c.1726A>C	NP_001357262.1:p.Arg576=
NM_001370334.1:c.1639A>C	NP_001357263.1:p.Arg547=
NM_001370335.1:c.1639A>C	NP_001357264.1:p.Arg547=
NM_001370336.1:c.1618A>C	NP_001357265.1:p.Arg540=
NM_172058.4:c.1639A>C	NP_742055.1:p.Arg547=
NM_172059.5:c.1621A>C	NP_742056.2:p.Arg541=