Canonical Allele Identifier: CA371467802

Gene: EYA1

Linked Data

• gnomAD v4: 8-71244664-A-G
• MyVariant Identifiers: chr8:g.72156899A>G (hg19) ; chr8:g.71244664A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.71244664A>G , CM000670.2:g.71244664A>G	GRCh38
NC_000008.10:g.72156899A>G , CM000670.1:g.72156899A>G	GRCh37
NC_000008.9:g.72319453A>G	NCBI36
NG_011735.2:g.122569T>C
NG_011735.3:g.308467T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340726.8:c.1079T>C MANE Select	ENSP00000342626.3:p.Leu360Pro
ENST00000388741.7:c.977T>C	ENSP00000373393.2:p.Leu326Pro
ENST00000419131.6:c.1035+25076T>C	ENSP00000410176.1:n.1035+25076T>C
ENST00000465115.6:c.*358T>C	ENSP00000428391.1:n.*358T>C
ENST00000493349.2:c.315T>C
ENST00000496494.6:n.1542T>C
ENST00000642391.1:c.*817+25076T>C	ENSP00000496700.1:n.*817+25076T>C
ENST00000643681.1:c.1166T>C	ENSP00000495390.1:p.Leu389Pro
ENST00000644229.1:c.1122+25076T>C	ENSP00000494568.1:n.1122+25076T>C
ENST00000644424.1:n.149T>C
ENST00000644712.1:c.1119+25076T>C	ENSP00000496188.1:n.1119+25076T>C
ENST00000645793.1:c.1079T>C	ENSP00000496255.1:p.Leu360Pro
ENST00000647540.1:c.1079T>C	ENSP00000494438.1:p.Leu360Pro
ENST00000303824.11:c.1061T>C	ENSP00000303221.7:p.Leu354Pro
ENST00000340726.7:c.1079T>C	ENSP00000342626.3:p.Leu360Pro
ENST00000388740.4:c.980T>C	ENSP00000373392.3:p.Leu327Pro
ENST00000388741.6:c.977T>C	ENSP00000373393.2:p.Leu326Pro
ENST00000388742.8:c.1079T>C	ENSP00000373394.4:p.Leu360Pro
ENST00000388743.6:c.1076T>C	ENSP00000373395.2:p.Leu359Pro
ENST00000419131.5:c.1035+25076T>C	ENSP00000410176.1:n.1035+25076T>C
ENST00000465115.5:c.*358T>C	ENSP00000428391.1:n.*358T>C
ENST00000493349.1:c.-5T>C	ENSP00000428517.1:n.-5T>C
ENST00000496494.5:n.1574T>C
NM_000503.5:c.1079T>C	NP_000494.2:p.Leu360Pro
NM_001288574.1:c.1061T>C	NP_001275503.1:p.Leu354Pro
NM_001288575.1:c.713T>C	NP_001275504.1:p.Leu238Pro
NM_172058.3:c.1079T>C	NP_742055.1:p.Leu360Pro
NM_172059.3:c.1035+25076T>C	NP_742056.1:n.1035+25076T>C
NM_172060.3:c.980T>C	NP_742057.1:p.Leu327Pro
XM_011517481.1:c.1151T>C	XP_011515783.1:p.Leu384Pro
XM_011517482.1:c.1166T>C	XP_011515784.1:p.Leu389Pro
XM_011517483.1:c.1076T>C	XP_011515785.1:p.Leu359Pro
XM_011517484.1:c.1064T>C	XP_011515786.1:p.Leu355Pro
XM_011517485.1:c.1079T>C	XP_011515787.1:p.Leu360Pro
XM_011517486.1:c.1079T>C	XP_011515788.1:p.Leu360Pro
XM_011517487.1:c.1079T>C	XP_011515789.1:p.Leu360Pro
XM_011517488.1:c.1076T>C	XP_011515790.1:p.Leu359Pro
XM_011517489.1:c.1016T>C	XP_011515791.1:p.Leu339Pro
XM_011517490.1:c.980T>C	XP_011515792.1:p.Leu327Pro
XM_011517491.1:c.980T>C	XP_011515793.1:p.Leu327Pro
XM_011517492.1:c.728T>C	XP_011515794.1:p.Leu243Pro
NM_172059.4:c.1122+25076T>C	NP_742056.2:n.1122+25076T>C
XM_011517483.2:c.1076T>C	XP_011515785.1:p.Leu359Pro
XM_011517484.3:c.1151T>C	XP_011515786.2:p.Leu384Pro
XM_017013201.1:c.1166T>C	XP_016868690.1:p.Leu389Pro
XM_017013202.1:c.1166T>C	XP_016868691.1:p.Leu389Pro
XM_017013203.2:c.1163T>C	XP_016868692.1:p.Leu388Pro
XM_017013204.2:c.1148T>C	XP_016868693.1:p.Leu383Pro
XM_017013205.2:c.1166T>C	XP_016868694.1:p.Leu389Pro
XM_017013206.1:c.1079T>C	XP_016868695.1:p.Leu360Pro
XM_017013207.2:c.1137+25076T>C	XP_016868696.1:n.1137+25076T>C
XM_017013208.2:c.1076T>C	XP_016868697.1:p.Leu359Pro
XM_017013210.2:c.1119+25076T>C	XP_016868699.1:n.1119+25076T>C
XM_017013211.2:c.1016T>C	XP_016868700.1:p.Leu339Pro
XM_017013212.2:c.980T>C	XP_016868701.1:p.Leu327Pro
XM_017013213.1:c.728T>C	XP_016868702.1:p.Leu243Pro
NM_000503.6:c.1079T>C MANE Select	NP_000494.2:p.Leu360Pro
NM_001288574.2:c.1061T>C	NP_001275503.1:p.Leu354Pro
NM_001288575.2:c.713T>C	NP_001275504.1:p.Leu238Pro
NM_001370333.1:c.1166T>C	NP_001357262.1:p.Leu389Pro
NM_001370334.1:c.1079T>C	NP_001357263.1:p.Leu360Pro
NM_001370335.1:c.1079T>C	NP_001357264.1:p.Leu360Pro
NM_001370336.1:c.1119+25076T>C	NP_001357265.1:n.1119+25076T>C
NM_172058.4:c.1079T>C	NP_742055.1:p.Leu360Pro
NM_172059.5:c.1122+25076T>C	NP_742056.2:n.1122+25076T>C