Canonical Allele Identifier: CA371466833

Gene: EYA1

Linked Data

• gnomAD v4: 8-71216818-C-T
• MyVariant Identifiers: chr8:g.72129053C>T (hg19) ; chr8:g.71216818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216818C>T , CM000670.2:g.71216818C>T	GRCh38
NC_000008.10:g.72129053C>T , CM000670.1:g.72129053C>T	GRCh37
NC_000008.9:g.72291607C>T	NCBI36
NG_011735.2:g.150415G>A
NG_011735.3:g.336313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1234G>A MANE Select	ENSP00000342626.3:p.Ala412Thr
ENST00000388741.7:c.1132G>A	ENSP00000373393.2:p.Ala378Thr
ENST00000419131.6:c.1129G>A	ENSP00000410176.1:p.Ala377Thr
ENST00000465115.6:c.*513G>A	ENSP00000428391.1:n.*513G>A
ENST00000493349.2:c.624G>A
ENST00000496494.6:n.1697G>A
ENST00000642391.1:c.*911G>A	ENSP00000496700.1:n.*911G>A
ENST00000643681.1:c.1321G>A	ENSP00000495390.1:p.Ala441Thr
ENST00000644229.1:c.1216G>A	ENSP00000494568.1:p.Ala406Thr
ENST00000644424.1:n.304G>A
ENST00000644712.1:c.1213G>A	ENSP00000496188.1:p.Ala405Thr
ENST00000645793.1:c.1234G>A	ENSP00000496255.1:p.Ala412Thr
ENST00000647540.1:c.1234G>A	ENSP00000494438.1:p.Ala412Thr
ENST00000303824.11:c.1216G>A	ENSP00000303221.7:p.Ala406Thr
ENST00000340726.7:c.1234G>A	ENSP00000342626.3:p.Ala412Thr
ENST00000388740.4:c.1135G>A	ENSP00000373392.3:p.Ala379Thr
ENST00000388741.6:c.1132G>A	ENSP00000373393.2:p.Ala378Thr
ENST00000388742.8:c.1234G>A	ENSP00000373394.4:p.Ala412Thr
ENST00000388743.6:c.1231G>A	ENSP00000373395.2:p.Ala411Thr
ENST00000419131.5:c.1129G>A	ENSP00000410176.1:p.Ala377Thr
ENST00000465115.5:c.*513G>A	ENSP00000428391.1:n.*513G>A
ENST00000493349.1:c.*179G>A	ENSP00000428517.1:n.*179G>A
ENST00000496494.5:n.1729G>A
NM_000503.5:c.1234G>A	NP_000494.2:p.Ala412Thr
NM_001288574.1:c.1216G>A	NP_001275503.1:p.Ala406Thr
NM_001288575.1:c.868G>A	NP_001275504.1:p.Ala290Thr
NM_172058.3:c.1234G>A	NP_742055.1:p.Ala412Thr
NM_172059.3:c.1129G>A	NP_742056.1:p.Ala377Thr
NM_172060.3:c.1135G>A	NP_742057.1:p.Ala379Thr
XM_011517481.1:c.1306G>A	XP_011515783.1:p.Ala436Thr
XM_011517482.1:c.1321G>A	XP_011515784.1:p.Ala441Thr
XM_011517483.1:c.1231G>A	XP_011515785.1:p.Ala411Thr
XM_011517484.1:c.1219G>A	XP_011515786.1:p.Ala407Thr
XM_011517485.1:c.1234G>A	XP_011515787.1:p.Ala412Thr
XM_011517486.1:c.1234G>A	XP_011515788.1:p.Ala412Thr
XM_011517487.1:c.1234G>A	XP_011515789.1:p.Ala412Thr
XM_011517488.1:c.1231G>A	XP_011515790.1:p.Ala411Thr
XM_011517489.1:c.1171G>A	XP_011515791.1:p.Ala391Thr
XM_011517490.1:c.1135G>A	XP_011515792.1:p.Ala379Thr
XM_011517491.1:c.1135G>A	XP_011515793.1:p.Ala379Thr
XM_011517492.1:c.883G>A	XP_011515794.1:p.Ala295Thr
NM_172059.4:c.1216G>A	NP_742056.2:p.Ala406Thr
XM_011517483.2:c.1231G>A	XP_011515785.1:p.Ala411Thr
XM_011517484.3:c.1306G>A	XP_011515786.2:p.Ala436Thr
XM_017013201.1:c.1321G>A	XP_016868690.1:p.Ala441Thr
XM_017013202.1:c.1321G>A	XP_016868691.1:p.Ala441Thr
XM_017013203.2:c.1318G>A	XP_016868692.1:p.Ala440Thr
XM_017013204.2:c.1303G>A	XP_016868693.1:p.Ala435Thr
XM_017013205.2:c.1321G>A	XP_016868694.1:p.Ala441Thr
XM_017013206.1:c.1234G>A	XP_016868695.1:p.Ala412Thr
XM_017013207.2:c.1231G>A	XP_016868696.1:p.Ala411Thr
XM_017013208.2:c.1231G>A	XP_016868697.1:p.Ala411Thr
XM_017013210.2:c.1213G>A	XP_016868699.1:p.Ala405Thr
XM_017013211.2:c.1171G>A	XP_016868700.1:p.Ala391Thr
XM_017013212.2:c.1135G>A	XP_016868701.1:p.Ala379Thr
XM_017013213.1:c.883G>A	XP_016868702.1:p.Ala295Thr
NM_000503.6:c.1234G>A MANE Select	NP_000494.2:p.Ala412Thr
NM_001288574.2:c.1216G>A	NP_001275503.1:p.Ala406Thr
NM_001288575.2:c.868G>A	NP_001275504.1:p.Ala290Thr
NM_001370333.1:c.1321G>A	NP_001357262.1:p.Ala441Thr
NM_001370334.1:c.1234G>A	NP_001357263.1:p.Ala412Thr
NM_001370335.1:c.1234G>A	NP_001357264.1:p.Ala412Thr
NM_001370336.1:c.1213G>A	NP_001357265.1:p.Ala405Thr
NM_172058.4:c.1234G>A	NP_742055.1:p.Ala412Thr
NM_172059.5:c.1216G>A	NP_742056.2:p.Ala406Thr