Canonical Allele Identifier: CA371466041

Gene: EYA1

Linked Data

• ClinVar Variation Id: 2102138
• ClinVar RCV Id: RCV003019374
• MyVariant Identifiers: chr8:g.72127621C>A (hg19) ; chr8:g.71215386C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71215386C>A , CM000670.2:g.71215386C>A	GRCh38
NC_000008.10:g.72127621C>A , CM000670.1:g.72127621C>A	GRCh37
NC_000008.9:g.72290175C>A	NCBI36
NG_011735.2:g.151847G>T
NG_011735.3:g.337745G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1597+1G>T MANE Select	ENSP00000342626.3:n.1597+1G>T
ENST00000388741.7:c.1495+1G>T	ENSP00000373393.2:n.1495+1G>T
ENST00000419131.6:c.1492+1G>T	ENSP00000410176.1:n.1492+1G>T
ENST00000465115.6:c.*876+1G>T	ENSP00000428391.1:n.*876+1G>T
ENST00000496494.6:n.2060+1G>T
ENST00000642391.1:c.*1274+1G>T	ENSP00000496700.1:n.*1274+1G>T
ENST00000643681.1:c.1684+1G>T	ENSP00000495390.1:n.1684+1G>T
ENST00000644229.1:c.1579+1G>T	ENSP00000494568.1:n.1579+1G>T
ENST00000644424.1:n.667+1G>T
ENST00000644712.1:c.1576+1G>T	ENSP00000496188.1:n.1576+1G>T
ENST00000645793.1:c.1597+1G>T	ENSP00000496255.1:n.1597+1G>T
ENST00000647540.1:c.1597+1G>T	ENSP00000494438.1:n.1597+1G>T
ENST00000303824.11:c.1579+1G>T	ENSP00000303221.7:n.1579+1G>T
ENST00000340726.7:c.1597+1G>T	ENSP00000342626.3:n.1597+1G>T
ENST00000388740.4:c.1498+1G>T	ENSP00000373392.3:n.1498+1G>T
ENST00000388741.6:c.1495+1G>T	ENSP00000373393.2:n.1495+1G>T
ENST00000388742.8:c.1597+1G>T	ENSP00000373394.4:n.1597+1G>T
ENST00000388743.6:c.1594+1G>T	ENSP00000373395.2:n.1594+1G>T
ENST00000419131.5:c.1492+1G>T	ENSP00000410176.1:n.1492+1G>T
ENST00000465115.5:c.*876+1G>T	ENSP00000428391.1:n.*876+1G>T
ENST00000496494.5:n.2092+1G>T
NM_000503.5:c.1597+1G>T	NP_000494.2:n.1597+1G>T
NM_001288574.1:c.1579+1G>T	NP_001275503.1:n.1579+1G>T
NM_001288575.1:c.1231+1G>T	NP_001275504.1:n.1231+1G>T
NM_172058.3:c.1597+1G>T	NP_742055.1:n.1597+1G>T
NM_172059.3:c.1492+1G>T	NP_742056.1:n.1492+1G>T
NM_172060.3:c.1498+1G>T	NP_742057.1:n.1498+1G>T
XM_011517481.1:c.1669+1G>T	XP_011515783.1:n.1669+1G>T
XM_011517482.1:c.1684+1G>T	XP_011515784.1:n.1684+1G>T
XM_011517483.1:c.1594+1G>T	XP_011515785.1:n.1594+1G>T
XM_011517484.1:c.1582+1G>T	XP_011515786.1:n.1582+1G>T
XM_011517485.1:c.1597+1G>T	XP_011515787.1:n.1597+1G>T
XM_011517486.1:c.1597+1G>T	XP_011515788.1:n.1597+1G>T
XM_011517487.1:c.1597+1G>T	XP_011515789.1:n.1597+1G>T
XM_011517488.1:c.1594+1G>T	XP_011515790.1:n.1594+1G>T
XM_011517489.1:c.1534+1G>T	XP_011515791.1:n.1534+1G>T
XM_011517490.1:c.1498+1G>T	XP_011515792.1:n.1498+1G>T
XM_011517491.1:c.1498+1G>T	XP_011515793.1:n.1498+1G>T
XM_011517492.1:c.1246+1G>T	XP_011515794.1:n.1246+1G>T
NM_172059.4:c.1579+1G>T	NP_742056.2:n.1579+1G>T
XM_011517483.2:c.1594+1G>T	XP_011515785.1:n.1594+1G>T
XM_011517484.3:c.1669+1G>T	XP_011515786.2:n.1669+1G>T
XM_017013201.1:c.1684+1G>T	XP_016868690.1:n.1684+1G>T
XM_017013202.1:c.1684+1G>T	XP_016868691.1:n.1684+1G>T
XM_017013203.2:c.1681+1G>T	XP_016868692.1:n.1681+1G>T
XM_017013204.2:c.1666+1G>T	XP_016868693.1:n.1666+1G>T
XM_017013205.2:c.1684+1G>T	XP_016868694.1:n.1684+1G>T
XM_017013206.1:c.1597+1G>T	XP_016868695.1:n.1597+1G>T
XM_017013207.2:c.1594+1G>T	XP_016868696.1:n.1594+1G>T
XM_017013208.2:c.1594+1G>T	XP_016868697.1:n.1594+1G>T
XM_017013210.2:c.1576+1G>T	XP_016868699.1:n.1576+1G>T
XM_017013211.2:c.1534+1G>T	XP_016868700.1:n.1534+1G>T
XM_017013212.2:c.1498+1G>T	XP_016868701.1:n.1498+1G>T
XM_017013213.1:c.1246+1G>T	XP_016868702.1:n.1246+1G>T
NM_000503.6:c.1597+1G>T MANE Select	NP_000494.2:n.1597+1G>T
NM_001288574.2:c.1579+1G>T	NP_001275503.1:n.1579+1G>T
NM_001288575.2:c.1231+1G>T	NP_001275504.1:n.1231+1G>T
NM_001370333.1:c.1684+1G>T	NP_001357262.1:n.1684+1G>T
NM_001370334.1:c.1597+1G>T	NP_001357263.1:n.1597+1G>T
NM_001370335.1:c.1597+1G>T	NP_001357264.1:n.1597+1G>T
NM_001370336.1:c.1576+1G>T	NP_001357265.1:n.1576+1G>T
NM_172058.4:c.1597+1G>T	NP_742055.1:n.1597+1G>T
NM_172059.5:c.1579+1G>T	NP_742056.2:n.1579+1G>T