Canonical Allele Identifier: CA371465947

Gene: EYA1

Linked Data

• dbSNP Id: rs1392532916
• gnomAD v2: 8-72123455-A-G
• gnomAD v4: 8-71211220-A-G
• MyVariant Identifiers: chr8:g.72123455A>G (hg19) ; chr8:g.71211220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71211220A>G , CM000670.2:g.71211220A>G	GRCh38
NC_000008.10:g.72123455A>G , CM000670.1:g.72123455A>G	GRCh37
NC_000008.9:g.72286009A>G	NCBI36
NG_011735.2:g.156013T>C
NG_011735.3:g.341911T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1634T>C MANE Select	ENSP00000342626.3:p.Phe545Ser
ENST00000388741.7:c.1532T>C	ENSP00000373393.2:p.Phe511Ser
ENST00000419131.6:c.1529T>C	ENSP00000410176.1:p.Phe510Ser
ENST00000465115.6:c.*913T>C	ENSP00000428391.1:n.*913T>C
ENST00000496494.6:n.2097T>C
ENST00000642391.1:c.*1311T>C	ENSP00000496700.1:n.*1311T>C
ENST00000643681.1:c.1721T>C	ENSP00000495390.1:p.Phe574Ser
ENST00000644229.1:c.1616T>C	ENSP00000494568.1:p.Phe539Ser
ENST00000644424.1:n.704T>C
ENST00000644712.1:c.1613T>C	ENSP00000496188.1:p.Phe538Ser
ENST00000645793.1:c.1634T>C	ENSP00000496255.1:p.Phe545Ser
ENST00000647540.1:c.1634T>C	ENSP00000494438.1:p.Phe545Ser
ENST00000303824.11:c.1616T>C	ENSP00000303221.7:p.Phe539Ser
ENST00000340726.7:c.1634T>C	ENSP00000342626.3:p.Phe545Ser
ENST00000388740.4:c.1535T>C	ENSP00000373392.3:p.Phe512Ser
ENST00000388741.6:c.1532T>C	ENSP00000373393.2:p.Phe511Ser
ENST00000388742.8:c.1634T>C	ENSP00000373394.4:p.Phe545Ser
ENST00000388743.6:c.1631T>C	ENSP00000373395.2:p.Phe544Ser
ENST00000419131.5:c.1529T>C	ENSP00000410176.1:p.Phe510Ser
ENST00000465115.5:c.*913T>C	ENSP00000428391.1:n.*913T>C
ENST00000496494.5:n.2129T>C
NM_000503.5:c.1634T>C	NP_000494.2:p.Phe545Ser
NM_001288574.1:c.1616T>C	NP_001275503.1:p.Phe539Ser
NM_001288575.1:c.1268T>C	NP_001275504.1:p.Phe423Ser
NM_172058.3:c.1634T>C	NP_742055.1:p.Phe545Ser
NM_172059.3:c.1529T>C	NP_742056.1:p.Phe510Ser
NM_172060.3:c.1535T>C	NP_742057.1:p.Phe512Ser
XM_011517481.1:c.1706T>C	XP_011515783.1:p.Phe569Ser
XM_011517482.1:c.1721T>C	XP_011515784.1:p.Phe574Ser
XM_011517483.1:c.1631T>C	XP_011515785.1:p.Phe544Ser
XM_011517484.1:c.1619T>C	XP_011515786.1:p.Phe540Ser
XM_011517485.1:c.1634T>C	XP_011515787.1:p.Phe545Ser
XM_011517486.1:c.1634T>C	XP_011515788.1:p.Phe545Ser
XM_011517487.1:c.1634T>C	XP_011515789.1:p.Phe545Ser
XM_011517488.1:c.1631T>C	XP_011515790.1:p.Phe544Ser
XM_011517489.1:c.1571T>C	XP_011515791.1:p.Phe524Ser
XM_011517490.1:c.1535T>C	XP_011515792.1:p.Phe512Ser
XM_011517491.1:c.1535T>C	XP_011515793.1:p.Phe512Ser
XM_011517492.1:c.1283T>C	XP_011515794.1:p.Phe428Ser
NM_172059.4:c.1616T>C	NP_742056.2:p.Phe539Ser
XM_011517483.2:c.1631T>C	XP_011515785.1:p.Phe544Ser
XM_011517484.3:c.1706T>C	XP_011515786.2:p.Phe569Ser
XM_017013201.1:c.1721T>C	XP_016868690.1:p.Phe574Ser
XM_017013202.1:c.1721T>C	XP_016868691.1:p.Phe574Ser
XM_017013203.2:c.1718T>C	XP_016868692.1:p.Phe573Ser
XM_017013204.2:c.1703T>C	XP_016868693.1:p.Phe568Ser
XM_017013205.2:c.1721T>C	XP_016868694.1:p.Phe574Ser
XM_017013206.1:c.1634T>C	XP_016868695.1:p.Phe545Ser
XM_017013207.2:c.1631T>C	XP_016868696.1:p.Phe544Ser
XM_017013208.2:c.1631T>C	XP_016868697.1:p.Phe544Ser
XM_017013210.2:c.1613T>C	XP_016868699.1:p.Phe538Ser
XM_017013211.2:c.1571T>C	XP_016868700.1:p.Phe524Ser
XM_017013212.2:c.1535T>C	XP_016868701.1:p.Phe512Ser
XM_017013213.1:c.1283T>C	XP_016868702.1:p.Phe428Ser
NM_000503.6:c.1634T>C MANE Select	NP_000494.2:p.Phe545Ser
NM_001288574.2:c.1616T>C	NP_001275503.1:p.Phe539Ser
NM_001288575.2:c.1268T>C	NP_001275504.1:p.Phe423Ser
NM_001370333.1:c.1721T>C	NP_001357262.1:p.Phe574Ser
NM_001370334.1:c.1634T>C	NP_001357263.1:p.Phe545Ser
NM_001370335.1:c.1634T>C	NP_001357264.1:p.Phe545Ser
NM_001370336.1:c.1613T>C	NP_001357265.1:p.Phe538Ser
NM_172058.4:c.1634T>C	NP_742055.1:p.Phe545Ser
NM_172059.5:c.1616T>C	NP_742056.2:p.Phe539Ser