Canonical Allele Identifier: CA371466677

Gene: EYA1

Linked Data

• ClinVar Variation Id: 2081341
• ClinVar RCV Id: RCV002994210
• dbSNP Id: rs1240529273
• gnomAD v2: 8-72128978-G-A
• gnomAD v3: 8-71216743-G-A
• gnomAD v4: 8-71216743-G-A
• COSMIC: COSM6454157 ; COSM6454158
• MyVariant Identifiers: chr8:g.72128978G>A (hg19) ; chr8:g.71216743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216743G>A , CM000670.2:g.71216743G>A	GRCh38
NC_000008.10:g.72128978G>A , CM000670.1:g.72128978G>A	GRCh37
NC_000008.9:g.72291532G>A	NCBI36
NG_011735.2:g.150490C>T
NG_011735.3:g.336388C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1309C>T MANE Select	ENSP00000342626.3:p.Arg437Cys
ENST00000388741.7:c.1207C>T	ENSP00000373393.2:p.Arg403Cys
ENST00000419131.6:c.1204C>T	ENSP00000410176.1:p.Arg402Cys
ENST00000465115.6:c.*588C>T	ENSP00000428391.1:n.*588C>T
ENST00000493349.2:c.699C>T
ENST00000496494.6:n.1772C>T
ENST00000642391.1:c.*986C>T	ENSP00000496700.1:n.*986C>T
ENST00000643681.1:c.1396C>T	ENSP00000495390.1:p.Arg466Cys
ENST00000644229.1:c.1291C>T	ENSP00000494568.1:p.Arg431Cys
ENST00000644424.1:n.379C>T
ENST00000644712.1:c.1288C>T	ENSP00000496188.1:p.Arg430Cys
ENST00000645793.1:c.1309C>T	ENSP00000496255.1:p.Arg437Cys
ENST00000647540.1:c.1309C>T	ENSP00000494438.1:p.Arg437Cys
ENST00000303824.11:c.1291C>T	ENSP00000303221.7:p.Arg431Cys
ENST00000340726.7:c.1309C>T	ENSP00000342626.3:p.Arg437Cys
ENST00000388740.4:c.1210C>T	ENSP00000373392.3:p.Arg404Cys
ENST00000388741.6:c.1207C>T	ENSP00000373393.2:p.Arg403Cys
ENST00000388742.8:c.1309C>T	ENSP00000373394.4:p.Arg437Cys
ENST00000388743.6:c.1306C>T	ENSP00000373395.2:p.Arg436Cys
ENST00000419131.5:c.1204C>T	ENSP00000410176.1:p.Arg402Cys
ENST00000465115.5:c.*588C>T	ENSP00000428391.1:n.*588C>T
ENST00000493349.1:c.*254C>T	ENSP00000428517.1:n.*254C>T
ENST00000496494.5:n.1804C>T
NM_000503.5:c.1309C>T	NP_000494.2:p.Arg437Cys
NM_001288574.1:c.1291C>T	NP_001275503.1:p.Arg431Cys
NM_001288575.1:c.943C>T	NP_001275504.1:p.Arg315Cys
NM_172058.3:c.1309C>T	NP_742055.1:p.Arg437Cys
NM_172059.3:c.1204C>T	NP_742056.1:p.Arg402Cys
NM_172060.3:c.1210C>T	NP_742057.1:p.Arg404Cys
XM_011517481.1:c.1381C>T	XP_011515783.1:p.Arg461Cys
XM_011517482.1:c.1396C>T	XP_011515784.1:p.Arg466Cys
XM_011517483.1:c.1306C>T	XP_011515785.1:p.Arg436Cys
XM_011517484.1:c.1294C>T	XP_011515786.1:p.Arg432Cys
XM_011517485.1:c.1309C>T	XP_011515787.1:p.Arg437Cys
XM_011517486.1:c.1309C>T	XP_011515788.1:p.Arg437Cys
XM_011517487.1:c.1309C>T	XP_011515789.1:p.Arg437Cys
XM_011517488.1:c.1306C>T	XP_011515790.1:p.Arg436Cys
XM_011517489.1:c.1246C>T	XP_011515791.1:p.Arg416Cys
XM_011517490.1:c.1210C>T	XP_011515792.1:p.Arg404Cys
XM_011517491.1:c.1210C>T	XP_011515793.1:p.Arg404Cys
XM_011517492.1:c.958C>T	XP_011515794.1:p.Arg320Cys
NM_172059.4:c.1291C>T	NP_742056.2:p.Arg431Cys
XM_011517483.2:c.1306C>T	XP_011515785.1:p.Arg436Cys
XM_011517484.3:c.1381C>T	XP_011515786.2:p.Arg461Cys
XM_017013201.1:c.1396C>T	XP_016868690.1:p.Arg466Cys
XM_017013202.1:c.1396C>T	XP_016868691.1:p.Arg466Cys
XM_017013203.2:c.1393C>T	XP_016868692.1:p.Arg465Cys
XM_017013204.2:c.1378C>T	XP_016868693.1:p.Arg460Cys
XM_017013205.2:c.1396C>T	XP_016868694.1:p.Arg466Cys
XM_017013206.1:c.1309C>T	XP_016868695.1:p.Arg437Cys
XM_017013207.2:c.1306C>T	XP_016868696.1:p.Arg436Cys
XM_017013208.2:c.1306C>T	XP_016868697.1:p.Arg436Cys
XM_017013210.2:c.1288C>T	XP_016868699.1:p.Arg430Cys
XM_017013211.2:c.1246C>T	XP_016868700.1:p.Arg416Cys
XM_017013212.2:c.1210C>T	XP_016868701.1:p.Arg404Cys
XM_017013213.1:c.958C>T	XP_016868702.1:p.Arg320Cys
NM_000503.6:c.1309C>T MANE Select	NP_000494.2:p.Arg437Cys
NM_001288574.2:c.1291C>T	NP_001275503.1:p.Arg431Cys
NM_001288575.2:c.943C>T	NP_001275504.1:p.Arg315Cys
NM_001370333.1:c.1396C>T	NP_001357262.1:p.Arg466Cys
NM_001370334.1:c.1309C>T	NP_001357263.1:p.Arg437Cys
NM_001370335.1:c.1309C>T	NP_001357264.1:p.Arg437Cys
NM_001370336.1:c.1288C>T	NP_001357265.1:p.Arg430Cys
NM_172058.4:c.1309C>T	NP_742055.1:p.Arg437Cys
NM_172059.5:c.1291C>T	NP_742056.2:p.Arg431Cys