Canonical Allele Identifier: CA371468221

Gene: EYA1

Linked Data

• ClinVar Variation Id: 522400
• ClinVar RCV Id: RCV000625536 ; RCV002233903
• dbSNP Id: rs1554615511
• MyVariant Identifiers: chr8:g.72181981A>C (hg19) ; chr8:g.71269746A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71269746A>C , CM000670.2:g.71269746A>C	GRCh38
NC_000008.10:g.72181981A>C , CM000670.1:g.72181981A>C	GRCh37
NC_000008.9:g.72344535A>C	NCBI36
NG_011735.2:g.97487T>G
NG_011735.3:g.283385T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1044T>G MANE Select	ENSP00000342626.3:p.Tyr348Ter
ENST00000388741.7:c.942T>G	ENSP00000373393.2:p.Tyr314Ter
ENST00000419131.6:c.1029T>G	ENSP00000410176.1:p.Tyr343Ter
ENST00000465115.6:c.*323T>G	ENSP00000428391.1:n.*323T>G
ENST00000493349.2:c.280T>G
ENST00000496494.6:n.1507T>G
ENST00000642391.1:c.*811T>G	ENSP00000496700.1:n.*811T>G
ENST00000643681.1:c.1131T>G	ENSP00000495390.1:p.Tyr377Ter
ENST00000644229.1:c.1116T>G	ENSP00000494568.1:p.Tyr372Ter
ENST00000644424.1:n.114T>G
ENST00000644712.1:c.1113T>G	ENSP00000496188.1:p.Tyr371Ter
ENST00000645793.1:c.1044T>G	ENSP00000496255.1:p.Tyr348Ter
ENST00000647540.1:c.1044T>G	ENSP00000494438.1:p.Tyr348Ter
ENST00000303824.11:c.1026T>G	ENSP00000303221.7:p.Tyr342Ter
ENST00000340726.7:c.1044T>G	ENSP00000342626.3:p.Tyr348Ter
ENST00000388740.4:c.945T>G	ENSP00000373392.3:p.Tyr315Ter
ENST00000388741.6:c.942T>G	ENSP00000373393.2:p.Tyr314Ter
ENST00000388742.8:c.1044T>G	ENSP00000373394.4:p.Tyr348Ter
ENST00000388743.6:c.1041T>G	ENSP00000373395.2:p.Tyr347Ter
ENST00000419131.5:c.1029T>G	ENSP00000410176.1:p.Tyr343Ter
ENST00000465115.5:c.*323T>G	ENSP00000428391.1:n.*323T>G
ENST00000493349.1:c.-40T>G	ENSP00000428517.1:n.-40T>G
ENST00000496494.5:n.1539T>G
NM_000503.5:c.1044T>G	NP_000494.2:p.Tyr348Ter
NM_001288574.1:c.1026T>G	NP_001275503.1:p.Tyr342Ter
NM_001288575.1:c.678T>G	NP_001275504.1:p.Tyr226Ter
NM_172058.3:c.1044T>G	NP_742055.1:p.Tyr348Ter
NM_172059.3:c.1029T>G	NP_742056.1:p.Tyr343Ter
NM_172060.3:c.945T>G	NP_742057.1:p.Tyr315Ter
XM_011517481.1:c.1116T>G	XP_011515783.1:p.Tyr372Ter
XM_011517482.1:c.1131T>G	XP_011515784.1:p.Tyr377Ter
XM_011517483.1:c.1041T>G	XP_011515785.1:p.Tyr347Ter
XM_011517484.1:c.1029T>G	XP_011515786.1:p.Tyr343Ter
XM_011517485.1:c.1044T>G	XP_011515787.1:p.Tyr348Ter
XM_011517486.1:c.1044T>G	XP_011515788.1:p.Tyr348Ter
XM_011517487.1:c.1044T>G	XP_011515789.1:p.Tyr348Ter
XM_011517488.1:c.1041T>G	XP_011515790.1:p.Tyr347Ter
XM_011517489.1:c.981T>G	XP_011515791.1:p.Tyr327Ter
XM_011517490.1:c.945T>G	XP_011515792.1:p.Tyr315Ter
XM_011517491.1:c.945T>G	XP_011515793.1:p.Tyr315Ter
XM_011517492.1:c.693T>G	XP_011515794.1:p.Tyr231Ter
NM_172059.4:c.1116T>G	NP_742056.2:p.Tyr372Ter
XM_011517483.2:c.1041T>G	XP_011515785.1:p.Tyr347Ter
XM_011517484.3:c.1116T>G	XP_011515786.2:p.Tyr372Ter
XM_017013201.1:c.1131T>G	XP_016868690.1:p.Tyr377Ter
XM_017013202.1:c.1131T>G	XP_016868691.1:p.Tyr377Ter
XM_017013203.2:c.1128T>G	XP_016868692.1:p.Tyr376Ter
XM_017013204.2:c.1113T>G	XP_016868693.1:p.Tyr371Ter
XM_017013205.2:c.1131T>G	XP_016868694.1:p.Tyr377Ter
XM_017013206.1:c.1044T>G	XP_016868695.1:p.Tyr348Ter
XM_017013207.2:c.1131T>G	XP_016868696.1:p.Tyr377Ter
XM_017013208.2:c.1041T>G	XP_016868697.1:p.Tyr347Ter
XM_017013210.2:c.1113T>G	XP_016868699.1:p.Tyr371Ter
XM_017013211.2:c.981T>G	XP_016868700.1:p.Tyr327Ter
XM_017013212.2:c.945T>G	XP_016868701.1:p.Tyr315Ter
XM_017013213.1:c.693T>G	XP_016868702.1:p.Tyr231Ter
NM_000503.6:c.1044T>G MANE Select	NP_000494.2:p.Tyr348Ter
NM_001288574.2:c.1026T>G	NP_001275503.1:p.Tyr342Ter
NM_001288575.2:c.678T>G	NP_001275504.1:p.Tyr226Ter
NM_001370333.1:c.1131T>G	NP_001357262.1:p.Tyr377Ter
NM_001370334.1:c.1044T>G	NP_001357263.1:p.Tyr348Ter
NM_001370335.1:c.1044T>G	NP_001357264.1:p.Tyr348Ter
NM_001370336.1:c.1113T>G	NP_001357265.1:p.Tyr371Ter
NM_172058.4:c.1044T>G	NP_742055.1:p.Tyr348Ter
NM_172059.5:c.1116T>G	NP_742056.2:p.Tyr372Ter