Canonical Allele Identifier: CA461434077

Gene: EYA1

Linked Data

• gnomAD v4: 8-71216801-G-A
• MyVariant Identifiers: chr8:g.72129036G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216801G>A , CM000670.2:g.71216801G>A	GRCh38
NC_000008.10:g.72129036G>A , CM000670.1:g.72129036G>A	GRCh37
NC_000008.9:g.72291590G>A	NCBI36
NG_011735.2:g.150432C>T
NG_011735.3:g.336330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1251C>T MANE Select	ENSP00000342626.3:p.Asn417=
ENST00000388741.7:c.1149C>T	ENSP00000373393.2:p.Asn383=
ENST00000419131.6:c.1146C>T	ENSP00000410176.1:p.Asn382=
ENST00000465115.6:c.*530C>T	ENSP00000428391.1:n.*530C>T
ENST00000493349.2:c.641C>T
ENST00000496494.6:n.1714C>T
ENST00000642391.1:c.*928C>T	ENSP00000496700.1:n.*928C>T
ENST00000643681.1:c.1338C>T	ENSP00000495390.1:p.Asn446=
ENST00000644229.1:c.1233C>T	ENSP00000494568.1:p.Asn411=
ENST00000644424.1:n.321C>T
ENST00000644712.1:c.1230C>T	ENSP00000496188.1:p.Asn410=
ENST00000645793.1:c.1251C>T	ENSP00000496255.1:p.Asn417=
ENST00000647540.1:c.1251C>T	ENSP00000494438.1:p.Asn417=
ENST00000303824.11:c.1233C>T	ENSP00000303221.7:p.Asn411=
ENST00000340726.7:c.1251C>T	ENSP00000342626.3:p.Asn417=
ENST00000388740.4:c.1152C>T	ENSP00000373392.3:p.Asn384=
ENST00000388741.6:c.1149C>T	ENSP00000373393.2:p.Asn383=
ENST00000388742.8:c.1251C>T	ENSP00000373394.4:p.Asn417=
ENST00000388743.6:c.1248C>T	ENSP00000373395.2:p.Asn416=
ENST00000419131.5:c.1146C>T	ENSP00000410176.1:p.Asn382=
ENST00000465115.5:c.*530C>T	ENSP00000428391.1:n.*530C>T
ENST00000493349.1:c.*196C>T	ENSP00000428517.1:n.*196C>T
ENST00000496494.5:n.1746C>T
NM_000503.5:c.1251C>T	NP_000494.2:p.Asn417=
NM_001288574.1:c.1233C>T	NP_001275503.1:p.Asn411=
NM_001288575.1:c.885C>T	NP_001275504.1:p.Asn295=
NM_172058.3:c.1251C>T	NP_742055.1:p.Asn417=
NM_172059.3:c.1146C>T	NP_742056.1:p.Asn382=
NM_172060.3:c.1152C>T	NP_742057.1:p.Asn384=
XM_011517481.1:c.1323C>T	XP_011515783.1:p.Asn441=
XM_011517482.1:c.1338C>T	XP_011515784.1:p.Asn446=
XM_011517483.1:c.1248C>T	XP_011515785.1:p.Asn416=
XM_011517484.1:c.1236C>T	XP_011515786.1:p.Asn412=
XM_011517485.1:c.1251C>T	XP_011515787.1:p.Asn417=
XM_011517486.1:c.1251C>T	XP_011515788.1:p.Asn417=
XM_011517487.1:c.1251C>T	XP_011515789.1:p.Asn417=
XM_011517488.1:c.1248C>T	XP_011515790.1:p.Asn416=
XM_011517489.1:c.1188C>T	XP_011515791.1:p.Asn396=
XM_011517490.1:c.1152C>T	XP_011515792.1:p.Asn384=
XM_011517491.1:c.1152C>T	XP_011515793.1:p.Asn384=
XM_011517492.1:c.900C>T	XP_011515794.1:p.Asn300=
NM_172059.4:c.1233C>T	NP_742056.2:p.Asn411=
XM_011517483.2:c.1248C>T	XP_011515785.1:p.Asn416=
XM_011517484.3:c.1323C>T	XP_011515786.2:p.Asn441=
XM_017013201.1:c.1338C>T	XP_016868690.1:p.Asn446=
XM_017013202.1:c.1338C>T	XP_016868691.1:p.Asn446=
XM_017013203.2:c.1335C>T	XP_016868692.1:p.Asn445=
XM_017013204.2:c.1320C>T	XP_016868693.1:p.Asn440=
XM_017013205.2:c.1338C>T	XP_016868694.1:p.Asn446=
XM_017013206.1:c.1251C>T	XP_016868695.1:p.Asn417=
XM_017013207.2:c.1248C>T	XP_016868696.1:p.Asn416=
XM_017013208.2:c.1248C>T	XP_016868697.1:p.Asn416=
XM_017013210.2:c.1230C>T	XP_016868699.1:p.Asn410=
XM_017013211.2:c.1188C>T	XP_016868700.1:p.Asn396=
XM_017013212.2:c.1152C>T	XP_016868701.1:p.Asn384=
XM_017013213.1:c.900C>T	XP_016868702.1:p.Asn300=
NM_000503.6:c.1251C>T MANE Select	NP_000494.2:p.Asn417=
NM_001288574.2:c.1233C>T	NP_001275503.1:p.Asn411=
NM_001288575.2:c.885C>T	NP_001275504.1:p.Asn295=
NM_001370333.1:c.1338C>T	NP_001357262.1:p.Asn446=
NM_001370334.1:c.1251C>T	NP_001357263.1:p.Asn417=
NM_001370335.1:c.1251C>T	NP_001357264.1:p.Asn417=
NM_001370336.1:c.1230C>T	NP_001357265.1:p.Asn410=
NM_172058.4:c.1251C>T	NP_742055.1:p.Asn417=
NM_172059.5:c.1233C>T	NP_742056.2:p.Asn411=