Canonical Allele Identifier: CA395344607
Community Standard Title: NM_001042432.2(CLN3):c.825G>A (p.Trp275Ter)
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482638C>T , CM000678.2:g.28482638C>T GRCh38
NC_000016.9:g.28493959C>T , CM000678.1:g.28493959C>T GRCh37
NC_000016.8:g.28401460C>T NCBI36
NG_008654.2:g.14665G>A , LRG_689:g.14665G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001042432.2:c.825G>A MANE Select NP_001035897.1:p.Trp275Ter
ENST00000636147.2:c.825G>A MANE Select ENSP00000490105.1:p.Trp275Ter
NM_000086.2:c.825G>A , LRG_689t1:c.825G>A NP_000077.1:p.Trp275Ter
NM_001042432.1:c.825G>A , LRG_689t2:c.825G>A NP_001035897.1:p.Trp275Ter
NM_001286104.1:c.753G>A NP_001273033.1:p.Trp251Ter
NM_001286104.2:c.753G>A NP_001273033.1:p.Trp251Ter
NM_001286105.1:c.525G>A NP_001273034.1:p.Trp175Ter
NM_001286105.2:c.525G>A NP_001273034.1:p.Trp175Ter
NM_001286109.1:c.591G>A NP_001273038.1:p.Trp197Ter
NM_001286109.2:c.591G>A NP_001273038.1:p.Trp197Ter
NM_001286110.1:c.663G>A NP_001273039.1:p.Trp221Ter
NM_001286110.2:c.663G>A NP_001273039.1:p.Trp221Ter
ENST00000333496.13:c.753G>A ENSP00000329171.9:p.Trp251Ter
ENST00000333496.14:c.753G>A ENSP00000329171.9:p.Trp251Ter
ENST00000355477.10:c.681G>A ENSP00000347660.7:p.Trp227Ter
ENST00000355477.9:c.*62G>A ENSP00000347660.6:n.*62G>A
ENST00000357806.11:c.528G>A ENSP00000350457.7:p.Trp176Ter
ENST00000357857.13:c.663G>A ENSP00000350523.9:p.Trp221Ter
ENST00000357857.14:c.663G>A ENSP00000350523.9:p.Trp221Ter
ENST00000359984.11:c.519G>A ENSP00000353073.8:p.Trp173Ter
ENST00000359984.12:c.825G>A ENSP00000353073.9:p.Trp275Ter
ENST00000360019.6:c.825G>A ENSP00000353116.2:p.Trp275Ter
ENST00000360019.8:c.753G>A ENSP00000353116.3:p.Trp251Ter
ENST00000395653.8:c.525G>A ENSP00000379014.4:p.Trp175Ter
ENST00000395653.9:c.366G>A ENSP00000379014.5:p.Trp122Ter
ENST00000561689.5:n.666G>A
ENST00000561689.6:n.1110G>A
ENST00000563874.5:n.2179G>A
ENST00000564091.6:c.165G>A ENSP00000454466.2:p.Trp55Ter
ENST00000564574.5:n.873G>A
ENST00000565047.1:n.419G>A
ENST00000565140.5:c.608G>A ENSP00000455342.1:n.608G>A
ENST00000565316.5:c.825G>A ENSP00000456117.1:p.Trp275Ter
ENST00000565316.6:c.825G>A ENSP00000456117.1:p.Trp275Ter
ENST00000565354.5:n.44G>A
ENST00000565778.5:c.456G>A ENSP00000458015.1:p.Trp152Ter
ENST00000565778.6:c.456G>A ENSP00000458015.1:p.Trp152Ter
ENST00000566057.5:c.439G>A ENSP00000456693.1:n.439G>A
ENST00000566083.5:n.1056G>A
ENST00000566083.6:n.1283G>A
ENST00000566824.5:n.874G>A
ENST00000566824.6:n.805G>A
ENST00000567495.5:c.*62G>A ENSP00000456013.1:n.*62G>A
ENST00000567963.5:c.825G>A ENSP00000455387.1:p.Trp275Ter
ENST00000567963.6:c.663G>A ENSP00000455387.2:p.Trp221Ter
ENST00000568076.5:n.608G>A
ENST00000568076.6:n.952G>A
ENST00000568224.4:c.591G>A ENSP00000454253.1:p.Trp197Ter
ENST00000568422.5:c.*62G>A ENSP00000455549.1:n.*62G>A
ENST00000568422.6:c.*62G>A ENSP00000455549.2:n.*62G>A
ENST00000568452.5:n.825G>A
ENST00000568452.6:n.928G>A
ENST00000568472.5:n.305G>A
ENST00000568472.6:n.701G>A
ENST00000568497.5:c.*121G>A ENSP00000456414.1:n.*121G>A
ENST00000568497.6:c.-145G>A ENSP00000456414.2:n.-145G>A
ENST00000568558.5:c.366G>A ENSP00000455603.1:p.Trp122Ter
ENST00000568558.6:c.528G>A ENSP00000455603.2:p.Trp176Ter
ENST00000569030.5:c.495G>A ENSP00000454680.1:p.Trp165Ter
ENST00000569430.5:c.825G>A ENSP00000454229.1:p.Trp275Ter
ENST00000569430.7:c.825G>A ENSP00000454229.1:p.Trp275Ter
ENST00000628023.2:c.*121G>A ENSP00000486178.1:n.*121G>A
ENST00000628023.3:c.*121G>A ENSP00000486178.1:n.*121G>A
ENST00000631023.2:c.825G>A ENSP00000486616.1:p.Trp275Ter
ENST00000635861.1:c.*349G>A ENSP00000490034.1:n.*349G>A
ENST00000635887.1:c.825G>A ENSP00000490709.1:p.Trp275Ter
ENST00000635958.1:n.936G>A
ENST00000635973.1:c.576G>A ENSP00000490363.1:p.Trp192Ter
ENST00000636017.1:c.*349G>A ENSP00000490538.1:n.*349G>A
ENST00000636078.1:n.867G>A
ENST00000636172.1:c.*349G>A ENSP00000490505.1:n.*349G>A
ENST00000636228.1:c.519G>A ENSP00000489627.1:p.Trp173Ter
ENST00000636351.1:n.545G>A
ENST00000636503.1:c.825G>A ENSP00000489824.1:p.Trp275Ter
ENST00000636685.1:n.332G>A
ENST00000636766.1:c.825G>A ENSP00000489841.1:p.Trp275Ter
ENST00000636839.1:n.977G>A
ENST00000636853.1:n.1740G>A
ENST00000636866.1:c.825G>A ENSP00000490880.1:p.Trp275Ter
ENST00000636907.1:n.976G>A
ENST00000636977.1:n.1893G>A
ENST00000637050.1:n.912G>A
ENST00000637100.1:c.825G>A ENSP00000490394.1:p.Trp275Ter
ENST00000637107.1:c.*349G>A ENSP00000490248.1:n.*349G>A
ENST00000637184.1:c.825G>A ENSP00000489952.1:p.Trp275Ter
ENST00000637299.1:c.*634G>A ENSP00000489823.1:n.*634G>A
ENST00000637376.1:c.825G>A ENSP00000490758.1:p.Trp275Ter
ENST00000637578.1:c.*349G>A ENSP00000490206.1:n.*349G>A
ENST00000637699.1:c.608G>A ENSP00000490049.1:n.608G>A
ENST00000637745.1:c.164G>A
ENST00000637871.1:c.*349G>A ENSP00000490670.1:n.*349G>A