Canonical Allele Identifier: CA371466803

Gene: EYA1

Linked Data

• gnomAD v4: 8-71216805-G-A
• MyVariant Identifiers: chr8:g.72129040G>A (hg19) ; chr8:g.71216805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216805G>A , CM000670.2:g.71216805G>A	GRCh38
NC_000008.10:g.72129040G>A , CM000670.1:g.72129040G>A	GRCh37
NC_000008.9:g.72291594G>A	NCBI36
NG_011735.2:g.150428C>T
NG_011735.3:g.336326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1247C>T MANE Select	ENSP00000342626.3:p.Ala416Val
ENST00000388741.7:c.1145C>T	ENSP00000373393.2:p.Ala382Val
ENST00000419131.6:c.1142C>T	ENSP00000410176.1:p.Ala381Val
ENST00000465115.6:c.*526C>T	ENSP00000428391.1:n.*526C>T
ENST00000493349.2:c.637C>T
ENST00000496494.6:n.1710C>T
ENST00000642391.1:c.*924C>T	ENSP00000496700.1:n.*924C>T
ENST00000643681.1:c.1334C>T	ENSP00000495390.1:p.Ala445Val
ENST00000644229.1:c.1229C>T	ENSP00000494568.1:p.Ala410Val
ENST00000644424.1:n.317C>T
ENST00000644712.1:c.1226C>T	ENSP00000496188.1:p.Ala409Val
ENST00000645793.1:c.1247C>T	ENSP00000496255.1:p.Ala416Val
ENST00000647540.1:c.1247C>T	ENSP00000494438.1:p.Ala416Val
ENST00000303824.11:c.1229C>T	ENSP00000303221.7:p.Ala410Val
ENST00000340726.7:c.1247C>T	ENSP00000342626.3:p.Ala416Val
ENST00000388740.4:c.1148C>T	ENSP00000373392.3:p.Ala383Val
ENST00000388741.6:c.1145C>T	ENSP00000373393.2:p.Ala382Val
ENST00000388742.8:c.1247C>T	ENSP00000373394.4:p.Ala416Val
ENST00000388743.6:c.1244C>T	ENSP00000373395.2:p.Ala415Val
ENST00000419131.5:c.1142C>T	ENSP00000410176.1:p.Ala381Val
ENST00000465115.5:c.*526C>T	ENSP00000428391.1:n.*526C>T
ENST00000493349.1:c.*192C>T	ENSP00000428517.1:n.*192C>T
ENST00000496494.5:n.1742C>T
NM_000503.5:c.1247C>T	NP_000494.2:p.Ala416Val
NM_001288574.1:c.1229C>T	NP_001275503.1:p.Ala410Val
NM_001288575.1:c.881C>T	NP_001275504.1:p.Ala294Val
NM_172058.3:c.1247C>T	NP_742055.1:p.Ala416Val
NM_172059.3:c.1142C>T	NP_742056.1:p.Ala381Val
NM_172060.3:c.1148C>T	NP_742057.1:p.Ala383Val
XM_011517481.1:c.1319C>T	XP_011515783.1:p.Ala440Val
XM_011517482.1:c.1334C>T	XP_011515784.1:p.Ala445Val
XM_011517483.1:c.1244C>T	XP_011515785.1:p.Ala415Val
XM_011517484.1:c.1232C>T	XP_011515786.1:p.Ala411Val
XM_011517485.1:c.1247C>T	XP_011515787.1:p.Ala416Val
XM_011517486.1:c.1247C>T	XP_011515788.1:p.Ala416Val
XM_011517487.1:c.1247C>T	XP_011515789.1:p.Ala416Val
XM_011517488.1:c.1244C>T	XP_011515790.1:p.Ala415Val
XM_011517489.1:c.1184C>T	XP_011515791.1:p.Ala395Val
XM_011517490.1:c.1148C>T	XP_011515792.1:p.Ala383Val
XM_011517491.1:c.1148C>T	XP_011515793.1:p.Ala383Val
XM_011517492.1:c.896C>T	XP_011515794.1:p.Ala299Val
NM_172059.4:c.1229C>T	NP_742056.2:p.Ala410Val
XM_011517483.2:c.1244C>T	XP_011515785.1:p.Ala415Val
XM_011517484.3:c.1319C>T	XP_011515786.2:p.Ala440Val
XM_017013201.1:c.1334C>T	XP_016868690.1:p.Ala445Val
XM_017013202.1:c.1334C>T	XP_016868691.1:p.Ala445Val
XM_017013203.2:c.1331C>T	XP_016868692.1:p.Ala444Val
XM_017013204.2:c.1316C>T	XP_016868693.1:p.Ala439Val
XM_017013205.2:c.1334C>T	XP_016868694.1:p.Ala445Val
XM_017013206.1:c.1247C>T	XP_016868695.1:p.Ala416Val
XM_017013207.2:c.1244C>T	XP_016868696.1:p.Ala415Val
XM_017013208.2:c.1244C>T	XP_016868697.1:p.Ala415Val
XM_017013210.2:c.1226C>T	XP_016868699.1:p.Ala409Val
XM_017013211.2:c.1184C>T	XP_016868700.1:p.Ala395Val
XM_017013212.2:c.1148C>T	XP_016868701.1:p.Ala383Val
XM_017013213.1:c.896C>T	XP_016868702.1:p.Ala299Val
NM_000503.6:c.1247C>T MANE Select	NP_000494.2:p.Ala416Val
NM_001288574.2:c.1229C>T	NP_001275503.1:p.Ala410Val
NM_001288575.2:c.881C>T	NP_001275504.1:p.Ala294Val
NM_001370333.1:c.1334C>T	NP_001357262.1:p.Ala445Val
NM_001370334.1:c.1247C>T	NP_001357263.1:p.Ala416Val
NM_001370335.1:c.1247C>T	NP_001357264.1:p.Ala416Val
NM_001370336.1:c.1226C>T	NP_001357265.1:p.Ala409Val
NM_172058.4:c.1247C>T	NP_742055.1:p.Ala416Val
NM_172059.5:c.1229C>T	NP_742056.2:p.Ala410Val