Canonical Allele Identifier: CA262038

Gene: EYA1

Linked Data

• ClinVar Variation Id: 48106
• ClinVar RCV Id: RCV000041392 ; RCV000763604 ; RCV001849294 ; RCV002243687
• dbSNP Id: rs397517920
• MyVariant Identifiers: chr8:g.72111606A>G (hg19) ; chr8:g.71199371A>G (hg38)
• PubMed: PMID:10991693

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71199371A>G , CM000670.2:g.71199371A>G	GRCh38
NC_000008.10:g.72111606A>G , CM000670.1:g.72111606A>G	GRCh37
NC_000008.9:g.72274160A>G	NCBI36
NG_011735.2:g.167862T>C
NG_011735.3:g.353760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1748T>C MANE Select	ENSP00000342626.3:p.Leu583Pro
ENST00000388741.7:c.1646T>C	ENSP00000373393.2:p.Leu549Pro
ENST00000419131.6:c.1643T>C	ENSP00000410176.1:p.Leu548Pro
ENST00000465115.6:c.*1027T>C	ENSP00000428391.1:n.*1027T>C
ENST00000496494.6:n.2211T>C
ENST00000642391.1:c.*1425T>C	ENSP00000496700.1:n.*1425T>C
ENST00000643681.1:c.1835T>C	ENSP00000495390.1:p.Leu612Pro
ENST00000644229.1:c.1730T>C	ENSP00000494568.1:p.Leu577Pro
ENST00000644424.1:n.818T>C
ENST00000644712.1:c.1727T>C	ENSP00000496188.1:p.Leu576Pro
ENST00000645793.1:c.1748T>C	ENSP00000496255.1:p.Leu583Pro
ENST00000647540.1:c.1748T>C	ENSP00000494438.1:p.Leu583Pro
ENST00000303824.11:c.1730T>C	ENSP00000303221.7:p.Leu577Pro
ENST00000340726.7:c.1748T>C	ENSP00000342626.3:p.Leu583Pro
ENST00000388740.4:c.1649T>C	ENSP00000373392.3:p.Leu550Pro
ENST00000388741.6:c.1646T>C	ENSP00000373393.2:p.Leu549Pro
ENST00000388742.8:c.1748T>C	ENSP00000373394.4:p.Leu583Pro
ENST00000388743.6:c.1745T>C	ENSP00000373395.2:p.Leu582Pro
ENST00000419131.5:c.1643T>C	ENSP00000410176.1:p.Leu548Pro
ENST00000465115.5:c.*1027T>C	ENSP00000428391.1:n.*1027T>C
ENST00000496494.5:n.2243T>C
NM_000503.5:c.1748T>C	NP_000494.2:p.Leu583Pro
NM_001288574.1:c.1730T>C	NP_001275503.1:p.Leu577Pro
NM_001288575.1:c.1382T>C	NP_001275504.1:p.Leu461Pro
NM_172058.3:c.1748T>C	NP_742055.1:p.Leu583Pro
NM_172059.3:c.1643T>C	NP_742056.1:p.Leu548Pro
NM_172060.3:c.1649T>C	NP_742057.1:p.Leu550Pro
XM_011517481.1:c.1821T>C	XP_011515783.1:p.Pro607=
XM_011517482.1:c.1836T>C	XP_011515784.1:p.Pro612=
XM_011517483.1:c.1745T>C	XP_011515785.1:p.Leu582Pro
XM_011517484.1:c.1733T>C	XP_011515786.1:p.Leu578Pro
XM_011517485.1:c.1749T>C	XP_011515787.1:p.Pro583=
XM_011517486.1:c.1749T>C	XP_011515788.1:p.Pro583=
XM_011517487.1:c.1749T>C	XP_011515789.1:p.Pro583=
XM_011517488.1:c.1746T>C	XP_011515790.1:p.Pro582=
XM_011517489.1:c.1686T>C	XP_011515791.1:p.Pro562=
XM_011517490.1:c.1650T>C	XP_011515792.1:p.Pro550=
XM_011517491.1:c.1650T>C	XP_011515793.1:p.Pro550=
XM_011517492.1:c.1398T>C	XP_011515794.1:p.Pro466=
NM_172059.4:c.1730T>C	NP_742056.2:p.Leu577Pro
XM_011517483.2:c.1745T>C	XP_011515785.1:p.Leu582Pro
XM_011517484.3:c.1820T>C	XP_011515786.2:p.Leu607Pro
XM_017013201.1:c.1835T>C	XP_016868690.1:p.Leu612Pro
XM_017013202.1:c.1835T>C	XP_016868691.1:p.Leu612Pro
XM_017013203.2:c.1832T>C	XP_016868692.1:p.Leu611Pro
XM_017013204.2:c.1817T>C	XP_016868693.1:p.Leu606Pro
XM_017013206.1:c.1748T>C	XP_016868695.1:p.Leu583Pro
XM_017013207.2:c.1745T>C	XP_016868696.1:p.Leu582Pro
XM_017013208.2:c.1745T>C	XP_016868697.1:p.Leu582Pro
XM_017013210.2:c.1727T>C	XP_016868699.1:p.Leu576Pro
XM_017013211.2:c.1685T>C	XP_016868700.1:p.Leu562Pro
XM_017013212.2:c.1649T>C	XP_016868701.1:p.Leu550Pro
XM_017013213.1:c.1397T>C	XP_016868702.1:p.Leu466Pro
XR_001745954.1:n.5008+26A>G
NM_000503.6:c.1748T>C MANE Select	NP_000494.2:p.Leu583Pro
NM_001288574.2:c.1730T>C	NP_001275503.1:p.Leu577Pro
NM_001288575.2:c.1382T>C	NP_001275504.1:p.Leu461Pro
NM_001370333.1:c.1835T>C	NP_001357262.1:p.Leu612Pro
NM_001370334.1:c.1748T>C	NP_001357263.1:p.Leu583Pro
NM_001370335.1:c.1748T>C	NP_001357264.1:p.Leu583Pro
NM_001370336.1:c.1727T>C	NP_001357265.1:p.Leu576Pro
NM_172058.4:c.1748T>C	NP_742055.1:p.Leu583Pro
NM_172059.5:c.1730T>C	NP_742056.2:p.Leu577Pro