Canonical Allele Identifier: CA395344229
Community Standard Title: NM_001042432.2(CLN3):c.967C>T (p.Gln323Ter)
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482194G>A , CM000678.2:g.28482194G>A GRCh38
NC_000016.9:g.28493515G>A , CM000678.1:g.28493515G>A GRCh37
NC_000016.8:g.28401016G>A NCBI36
NG_008654.2:g.15109C>T , LRG_689:g.15109C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001042432.2:c.967C>T MANE Select NP_001035897.1:p.Gln323Ter
ENST00000636147.2:c.967C>T MANE Select ENSP00000490105.1:p.Gln323Ter
NM_000086.2:c.967C>T , LRG_689t1:c.967C>T NP_000077.1:p.Gln323Ter
NM_001042432.1:c.967C>T , LRG_689t2:c.967C>T NP_001035897.1:p.Gln323Ter
NM_001286104.1:c.895C>T NP_001273033.1:p.Gln299Ter
NM_001286104.2:c.895C>T NP_001273033.1:p.Gln299Ter
NM_001286105.1:c.667C>T NP_001273034.1:p.Gln223Ter
NM_001286105.2:c.667C>T NP_001273034.1:p.Gln223Ter
NM_001286109.1:c.733C>T NP_001273038.1:p.Gln245Ter
NM_001286109.2:c.733C>T NP_001273038.1:p.Gln245Ter
NM_001286110.1:c.805C>T NP_001273039.1:p.Gln269Ter
NM_001286110.2:c.805C>T NP_001273039.1:p.Gln269Ter
ENST00000333496.13:c.895C>T ENSP00000329171.9:p.Gln299Ter
ENST00000333496.14:c.895C>T ENSP00000329171.9:p.Gln299Ter
ENST00000355477.10:c.823C>T ENSP00000347660.7:p.Gln275Ter
ENST00000355477.9:c.*204C>T ENSP00000347660.6:n.*204C>T
ENST00000357806.11:c.670C>T ENSP00000350457.7:p.Gln224Ter
ENST00000357857.13:c.805C>T ENSP00000350523.9:p.Gln269Ter
ENST00000357857.14:c.805C>T ENSP00000350523.9:p.Gln269Ter
ENST00000359984.11:c.661C>T ENSP00000353073.8:p.Gln221Ter
ENST00000359984.12:c.967C>T ENSP00000353073.9:p.Gln323Ter
ENST00000360019.6:c.967C>T ENSP00000353116.2:p.Gln323Ter
ENST00000360019.8:c.895C>T ENSP00000353116.3:p.Gln299Ter
ENST00000395653.8:c.667C>T ENSP00000379014.4:p.Gln223Ter
ENST00000395653.9:c.508C>T ENSP00000379014.5:p.Gln170Ter
ENST00000561689.5:n.936C>T
ENST00000561689.6:n.1380C>T
ENST00000563874.5:n.2495C>T
ENST00000564091.5:c.56C>T
ENST00000564091.6:c.307C>T ENSP00000454466.2:p.Gln103Ter
ENST00000564574.5:n.1143C>T
ENST00000565140.5:c.750C>T ENSP00000455342.1:n.750C>T
ENST00000565316.5:c.916C>T ENSP00000456117.1:p.Gln306Ter
ENST00000565316.6:c.916C>T ENSP00000456117.1:p.Gln306Ter
ENST00000565354.5:n.280C>T
ENST00000566057.5:c.581C>T ENSP00000456693.1:n.581C>T
ENST00000566824.6:n.1027C>T
ENST00000567963.5:c.906+283C>T ENSP00000455387.1:n.906+283C>T
ENST00000567963.6:c.805C>T ENSP00000455387.2:p.Gln269Ter
ENST00000568076.5:n.878C>T
ENST00000568076.6:n.1396C>T
ENST00000568224.4:c.733C>T ENSP00000454253.1:p.Gln245Ter
ENST00000568422.5:c.*204C>T ENSP00000455549.1:n.*204C>T
ENST00000568422.6:c.*204C>T ENSP00000455549.2:n.*204C>T
ENST00000568452.5:n.1095C>T
ENST00000568452.6:n.1198C>T
ENST00000568472.5:n.447C>T
ENST00000568497.6:c.-3C>T ENSP00000456414.2:n.-3C>T
ENST00000568558.5:c.508C>T ENSP00000455603.1:p.Gln170Ter
ENST00000569030.5:c.637C>T ENSP00000454680.1:p.Gln213Ter
ENST00000569430.5:c.967C>T ENSP00000454229.1:p.Gln323Ter
ENST00000569430.7:c.967C>T ENSP00000454229.1:p.Gln323Ter
ENST00000628023.2:c.*263C>T ENSP00000486178.1:n.*263C>T
ENST00000628023.3:c.*263C>T ENSP00000486178.1:n.*263C>T
ENST00000631023.2:c.906+283C>T ENSP00000486616.1:n.906+283C>T
ENST00000635861.1:c.*619C>T ENSP00000490034.1:n.*619C>T
ENST00000635887.1:c.967C>T ENSP00000490709.1:p.Gln323Ter
ENST00000635958.1:n.1252C>T
ENST00000635973.1:c.718C>T ENSP00000490363.1:p.Gln240Ter
ENST00000636017.1:c.*491C>T ENSP00000490538.1:n.*491C>T
ENST00000636078.1:n.1089C>T
ENST00000636172.1:c.*491C>T ENSP00000490505.1:n.*491C>T
ENST00000636228.1:c.661C>T ENSP00000489627.1:p.Gln221Ter
ENST00000636351.1:n.861C>T
ENST00000636503.1:c.967C>T ENSP00000489824.1:p.Gln323Ter
ENST00000636685.1:n.648C>T
ENST00000636766.1:c.967C>T ENSP00000489841.1:p.Gln323Ter
ENST00000636839.1:n.1341C>T
ENST00000636853.1:n.1882C>T
ENST00000636866.1:c.967C>T ENSP00000490880.1:p.Gln323Ter
ENST00000636907.1:n.1118C>T
ENST00000636977.1:n.2337C>T
ENST00000637050.1:n.1356C>T
ENST00000637100.1:c.916C>T ENSP00000490394.1:p.Gln306Ter
ENST00000637107.1:c.*491C>T ENSP00000490248.1:n.*491C>T
ENST00000637184.1:c.967C>T ENSP00000489952.1:p.Gln323Ter
ENST00000637299.1:c.*776C>T ENSP00000489823.1:n.*776C>T
ENST00000637376.1:c.967C>T ENSP00000490758.1:p.Gln323Ter
ENST00000637378.1:c.139C>T ENSP00000490831.1:p.Gln47Ter
ENST00000637578.1:c.*491C>T ENSP00000490206.1:n.*491C>T
ENST00000637699.1:c.878C>T ENSP00000490049.1:n.878C>T
ENST00000637745.1:c.306C>T
ENST00000637871.1:c.*665C>T ENSP00000490670.1:n.*665C>T
ENST00000638036.1:c.129C>T