Canonical Allele Identifier: CA142596

Gene: EYA1

Linked Data

• ClinVar Variation Id: 48100
• ClinVar RCV Id: RCV000041386 ; RCV000842338 ; RCV001159333 ; RCV001164236 ; RCV002513584 ; RCV002496656
• dbSNP Id: rs372488542
• ExAC: 8:72129214 G / A
• gnomAD v2: 8-72129214-G-A
• gnomAD v3: 8-71216979-G-A
• gnomAD v4: 8-71216979-G-A
• MyVariant Identifiers: chr8:g.72129214G>A (hg19) ; chr8:g.71216979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71216979G>A , CM000670.2:g.71216979G>A	GRCh38
NC_000008.10:g.72129214G>A , CM000670.1:g.72129214G>A	GRCh37
NC_000008.9:g.72291768G>A	NCBI36
NG_011735.2:g.150254C>T
NG_011735.3:g.336152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340726.8:c.1185C>T MANE Select	ENSP00000342626.3:p.Asn395=
ENST00000388741.7:c.1083C>T	ENSP00000373393.2:p.Asn361=
ENST00000419131.6:c.1080C>T	ENSP00000410176.1:p.Asn360=
ENST00000465115.6:c.*464C>T	ENSP00000428391.1:n.*464C>T
ENST00000493349.2:c.575C>T
ENST00000496494.6:n.1648C>T
ENST00000642391.1:c.*862C>T	ENSP00000496700.1:n.*862C>T
ENST00000643681.1:c.1272C>T	ENSP00000495390.1:p.Asn424=
ENST00000644229.1:c.1167C>T	ENSP00000494568.1:p.Asn389=
ENST00000644424.1:n.255C>T
ENST00000644712.1:c.1164C>T	ENSP00000496188.1:p.Asn388=
ENST00000645793.1:c.1185C>T	ENSP00000496255.1:p.Asn395=
ENST00000647540.1:c.1185C>T	ENSP00000494438.1:p.Asn395=
ENST00000303824.11:c.1167C>T	ENSP00000303221.7:p.Asn389=
ENST00000340726.7:c.1185C>T	ENSP00000342626.3:p.Asn395=
ENST00000388740.4:c.1086C>T	ENSP00000373392.3:p.Asn362=
ENST00000388741.6:c.1083C>T	ENSP00000373393.2:p.Asn361=
ENST00000388742.8:c.1185C>T	ENSP00000373394.4:p.Asn395=
ENST00000388743.6:c.1182C>T	ENSP00000373395.2:p.Asn394=
ENST00000419131.5:c.1080C>T	ENSP00000410176.1:p.Asn360=
ENST00000465115.5:c.*464C>T	ENSP00000428391.1:n.*464C>T
ENST00000493349.1:c.*130C>T	ENSP00000428517.1:n.*130C>T
ENST00000496494.5:n.1680C>T
NM_000503.5:c.1185C>T	NP_000494.2:p.Asn395=
NM_001288574.1:c.1167C>T	NP_001275503.1:p.Asn389=
NM_001288575.1:c.819C>T	NP_001275504.1:p.Asn273=
NM_172058.3:c.1185C>T	NP_742055.1:p.Asn395=
NM_172059.3:c.1080C>T	NP_742056.1:p.Asn360=
NM_172060.3:c.1086C>T	NP_742057.1:p.Asn362=
XM_011517481.1:c.1257C>T	XP_011515783.1:p.Asn419=
XM_011517482.1:c.1272C>T	XP_011515784.1:p.Asn424=
XM_011517483.1:c.1182C>T	XP_011515785.1:p.Asn394=
XM_011517484.1:c.1170C>T	XP_011515786.1:p.Asn390=
XM_011517485.1:c.1185C>T	XP_011515787.1:p.Asn395=
XM_011517486.1:c.1185C>T	XP_011515788.1:p.Asn395=
XM_011517487.1:c.1185C>T	XP_011515789.1:p.Asn395=
XM_011517488.1:c.1182C>T	XP_011515790.1:p.Asn394=
XM_011517489.1:c.1122C>T	XP_011515791.1:p.Asn374=
XM_011517490.1:c.1086C>T	XP_011515792.1:p.Asn362=
XM_011517491.1:c.1086C>T	XP_011515793.1:p.Asn362=
XM_011517492.1:c.834C>T	XP_011515794.1:p.Asn278=
NM_172059.4:c.1167C>T	NP_742056.2:p.Asn389=
XM_011517483.2:c.1182C>T	XP_011515785.1:p.Asn394=
XM_011517484.3:c.1257C>T	XP_011515786.2:p.Asn419=
XM_017013201.1:c.1272C>T	XP_016868690.1:p.Asn424=
XM_017013202.1:c.1272C>T	XP_016868691.1:p.Asn424=
XM_017013203.2:c.1269C>T	XP_016868692.1:p.Asn423=
XM_017013204.2:c.1254C>T	XP_016868693.1:p.Asn418=
XM_017013205.2:c.1272C>T	XP_016868694.1:p.Asn424=
XM_017013206.1:c.1185C>T	XP_016868695.1:p.Asn395=
XM_017013207.2:c.1182C>T	XP_016868696.1:p.Asn394=
XM_017013208.2:c.1182C>T	XP_016868697.1:p.Asn394=
XM_017013210.2:c.1164C>T	XP_016868699.1:p.Asn388=
XM_017013211.2:c.1122C>T	XP_016868700.1:p.Asn374=
XM_017013212.2:c.1086C>T	XP_016868701.1:p.Asn362=
XM_017013213.1:c.834C>T	XP_016868702.1:p.Asn278=
NM_000503.6:c.1185C>T MANE Select	NP_000494.2:p.Asn395=
NM_001288574.2:c.1167C>T	NP_001275503.1:p.Asn389=
NM_001288575.2:c.819C>T	NP_001275504.1:p.Asn273=
NM_001370333.1:c.1272C>T	NP_001357262.1:p.Asn424=
NM_001370334.1:c.1185C>T	NP_001357263.1:p.Asn395=
NM_001370335.1:c.1185C>T	NP_001357264.1:p.Asn395=
NM_001370336.1:c.1164C>T	NP_001357265.1:p.Asn388=
NM_172058.4:c.1185C>T	NP_742055.1:p.Asn395=
NM_172059.5:c.1167C>T	NP_742056.2:p.Asn389=