Canonical Allele Identifier: CA371466789

Gene: EYA1

Linked Data

• MyVariant Identifiers: chr8:g.72129033T>G (hg19) ; chr8:g.71216798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216798T>G , CM000670.2:g.71216798T>G	GRCh38
NC_000008.10:g.72129033T>G , CM000670.1:g.72129033T>G	GRCh37
NC_000008.9:g.72291587T>G	NCBI36
NG_011735.2:g.150435A>C
NG_011735.3:g.336333A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1254A>C MANE Select	ENSP00000342626.3:p.Leu418Phe
ENST00000388741.7:c.1152A>C	ENSP00000373393.2:p.Leu384Phe
ENST00000419131.6:c.1149A>C	ENSP00000410176.1:p.Leu383Phe
ENST00000465115.6:c.*533A>C	ENSP00000428391.1:n.*533A>C
ENST00000493349.2:c.644A>C
ENST00000496494.6:n.1717A>C
ENST00000642391.1:c.*931A>C	ENSP00000496700.1:n.*931A>C
ENST00000643681.1:c.1341A>C	ENSP00000495390.1:p.Leu447Phe
ENST00000644229.1:c.1236A>C	ENSP00000494568.1:p.Leu412Phe
ENST00000644424.1:n.324A>C
ENST00000644712.1:c.1233A>C	ENSP00000496188.1:p.Leu411Phe
ENST00000645793.1:c.1254A>C	ENSP00000496255.1:p.Leu418Phe
ENST00000647540.1:c.1254A>C	ENSP00000494438.1:p.Leu418Phe
ENST00000303824.11:c.1236A>C	ENSP00000303221.7:p.Leu412Phe
ENST00000340726.7:c.1254A>C	ENSP00000342626.3:p.Leu418Phe
ENST00000388740.4:c.1155A>C	ENSP00000373392.3:p.Leu385Phe
ENST00000388741.6:c.1152A>C	ENSP00000373393.2:p.Leu384Phe
ENST00000388742.8:c.1254A>C	ENSP00000373394.4:p.Leu418Phe
ENST00000388743.6:c.1251A>C	ENSP00000373395.2:p.Leu417Phe
ENST00000419131.5:c.1149A>C	ENSP00000410176.1:p.Leu383Phe
ENST00000465115.5:c.*533A>C	ENSP00000428391.1:n.*533A>C
ENST00000493349.1:c.*199A>C	ENSP00000428517.1:n.*199A>C
ENST00000496494.5:n.1749A>C
NM_000503.5:c.1254A>C	NP_000494.2:p.Leu418Phe
NM_001288574.1:c.1236A>C	NP_001275503.1:p.Leu412Phe
NM_001288575.1:c.888A>C	NP_001275504.1:p.Leu296Phe
NM_172058.3:c.1254A>C	NP_742055.1:p.Leu418Phe
NM_172059.3:c.1149A>C	NP_742056.1:p.Leu383Phe
NM_172060.3:c.1155A>C	NP_742057.1:p.Leu385Phe
XM_011517481.1:c.1326A>C	XP_011515783.1:p.Leu442Phe
XM_011517482.1:c.1341A>C	XP_011515784.1:p.Leu447Phe
XM_011517483.1:c.1251A>C	XP_011515785.1:p.Leu417Phe
XM_011517484.1:c.1239A>C	XP_011515786.1:p.Leu413Phe
XM_011517485.1:c.1254A>C	XP_011515787.1:p.Leu418Phe
XM_011517486.1:c.1254A>C	XP_011515788.1:p.Leu418Phe
XM_011517487.1:c.1254A>C	XP_011515789.1:p.Leu418Phe
XM_011517488.1:c.1251A>C	XP_011515790.1:p.Leu417Phe
XM_011517489.1:c.1191A>C	XP_011515791.1:p.Leu397Phe
XM_011517490.1:c.1155A>C	XP_011515792.1:p.Leu385Phe
XM_011517491.1:c.1155A>C	XP_011515793.1:p.Leu385Phe
XM_011517492.1:c.903A>C	XP_011515794.1:p.Leu301Phe
NM_172059.4:c.1236A>C	NP_742056.2:p.Leu412Phe
XM_011517483.2:c.1251A>C	XP_011515785.1:p.Leu417Phe
XM_011517484.3:c.1326A>C	XP_011515786.2:p.Leu442Phe
XM_017013201.1:c.1341A>C	XP_016868690.1:p.Leu447Phe
XM_017013202.1:c.1341A>C	XP_016868691.1:p.Leu447Phe
XM_017013203.2:c.1338A>C	XP_016868692.1:p.Leu446Phe
XM_017013204.2:c.1323A>C	XP_016868693.1:p.Leu441Phe
XM_017013205.2:c.1341A>C	XP_016868694.1:p.Leu447Phe
XM_017013206.1:c.1254A>C	XP_016868695.1:p.Leu418Phe
XM_017013207.2:c.1251A>C	XP_016868696.1:p.Leu417Phe
XM_017013208.2:c.1251A>C	XP_016868697.1:p.Leu417Phe
XM_017013210.2:c.1233A>C	XP_016868699.1:p.Leu411Phe
XM_017013211.2:c.1191A>C	XP_016868700.1:p.Leu397Phe
XM_017013212.2:c.1155A>C	XP_016868701.1:p.Leu385Phe
XM_017013213.1:c.903A>C	XP_016868702.1:p.Leu301Phe
NM_000503.6:c.1254A>C MANE Select	NP_000494.2:p.Leu418Phe
NM_001288574.2:c.1236A>C	NP_001275503.1:p.Leu412Phe
NM_001288575.2:c.888A>C	NP_001275504.1:p.Leu296Phe
NM_001370333.1:c.1341A>C	NP_001357262.1:p.Leu447Phe
NM_001370334.1:c.1254A>C	NP_001357263.1:p.Leu418Phe
NM_001370335.1:c.1254A>C	NP_001357264.1:p.Leu418Phe
NM_001370336.1:c.1233A>C	NP_001357265.1:p.Leu411Phe
NM_172058.4:c.1254A>C	NP_742055.1:p.Leu418Phe
NM_172059.5:c.1236A>C	NP_742056.2:p.Leu412Phe