Canonical Allele Identifier: CA2215691955
Community Standard Title: NM_001042432.2(CLN3):c.1059C= (p.Cys353=)
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28477875G= , CM000678.2:g.28477875G= GRCh38
NC_000016.9:g.28489196G= , CM000678.1:g.28489196G= GRCh37
NC_000016.8:g.28396697G= NCBI36
NG_008654.2:g.19428C= , LRG_689:g.19428C=

Transcript Alleles

HGVS Amino-acid Change
NM_001042432.2:c.1059C= MANE Select NP_001035897.1:p.Cys353=
ENST00000636147.2:c.1059C= MANE Select ENSP00000490105.1:p.Cys353=
NM_000086.2:c.1059C= , LRG_689t1:c.1059C= NP_000077.1:p.Cys353=
NM_001042432.1:c.1059C= , LRG_689t2:c.1059C= NP_001035897.1:p.Cys353=
NM_001286104.1:c.987C= NP_001273033.1:p.Cys329=
NM_001286104.2:c.987C= NP_001273033.1:p.Cys329=
NM_001286105.1:c.759C= NP_001273034.1:p.Cys253=
NM_001286105.2:c.759C= NP_001273034.1:p.Cys253=
NM_001286109.1:c.825C= NP_001273038.1:p.Cys275=
NM_001286109.2:c.825C= NP_001273038.1:p.Cys275=
NM_001286110.1:c.897C= NP_001273039.1:p.Cys299=
NM_001286110.2:c.897C= NP_001273039.1:p.Cys299=
ENST00000333496.13:c.987C= ENSP00000329171.9:p.Cys329=
ENST00000333496.14:c.987C= ENSP00000329171.9:p.Cys329=
ENST00000355477.10:c.915C= ENSP00000347660.7:p.Cys305=
ENST00000355477.9:c.*296C= ENSP00000347660.6:n.*296C=
ENST00000357806.11:c.762C= ENSP00000350457.7:p.Cys254=
ENST00000357857.13:c.897C= ENSP00000350523.9:p.Cys299=
ENST00000357857.14:c.897C= ENSP00000350523.9:p.Cys299=
ENST00000359984.11:c.753C= ENSP00000353073.8:p.Cys251=
ENST00000359984.12:c.1059C= ENSP00000353073.9:p.Cys353=
ENST00000360019.6:c.1059C= ENSP00000353116.2:p.Cys353=
ENST00000360019.8:c.987C= ENSP00000353116.3:p.Cys329=
ENST00000395653.8:c.759C= ENSP00000379014.4:p.Cys253=
ENST00000395653.9:c.600C= ENSP00000379014.5:p.Cys200=
ENST00000561689.5:n.1028C=
ENST00000561689.6:n.1472C=
ENST00000563874.5:n.2587C=
ENST00000564091.5:c.148C=
ENST00000564091.6:c.399C= ENSP00000454466.2:p.Cys133=
ENST00000565140.5:c.967C= ENSP00000455342.1:n.967C=
ENST00000565316.5:c.1008C= ENSP00000456117.1:p.Cys336=
ENST00000565316.6:c.1008C= ENSP00000456117.1:p.Cys336=
ENST00000565354.5:n.372C=
ENST00000566057.5:c.673C= ENSP00000456693.1:n.673C=
ENST00000566824.6:n.1241C=
ENST00000567963.5:c.907-240C= ENSP00000455387.1:n.907-240C=
ENST00000567963.6:c.897C= ENSP00000455387.2:p.Cys299=
ENST00000568076.5:n.970C=
ENST00000568076.6:n.1488C=
ENST00000568224.4:c.825C= ENSP00000454253.1:p.Cys275=
ENST00000568422.5:c.*296C= ENSP00000455549.1:n.*296C=
ENST00000568422.6:c.*296C= ENSP00000455549.2:n.*296C=
ENST00000568452.5:n.1187C=
ENST00000568452.6:n.1290C=
ENST00000569030.5:c.851C= ENSP00000454680.1:n.851C=
ENST00000569430.5:c.1059C= ENSP00000454229.1:p.Cys353=
ENST00000569430.7:c.1059C= ENSP00000454229.1:p.Cys353=
ENST00000628023.2:c.*355C= ENSP00000486178.1:n.*355C=
ENST00000628023.3:c.*355C= ENSP00000486178.1:n.*355C=
ENST00000631023.2:c.907-240C= ENSP00000486616.1:n.907-240C=
ENST00000635861.1:c.*711C= ENSP00000490034.1:n.*711C=
ENST00000635887.1:c.1059C= ENSP00000490709.1:p.Cys353=
ENST00000635958.1:n.1466C=
ENST00000636017.1:c.*583C= ENSP00000490538.1:n.*583C=
ENST00000636078.1:n.1181C=
ENST00000636172.1:c.*583C= ENSP00000490505.1:n.*583C=
ENST00000636228.1:c.753C= ENSP00000489627.1:p.Cys251=
ENST00000636351.1:n.953C=
ENST00000636503.1:c.*89C= ENSP00000489824.1:n.*89C=
ENST00000636685.1:n.740C=
ENST00000636766.1:c.1059C= ENSP00000489841.1:p.Cys353=
ENST00000636839.1:n.1555C=
ENST00000636853.1:n.2072C=
ENST00000636866.1:c.1059C= ENSP00000490880.1:p.Cys353=
ENST00000636907.1:n.1210C=
ENST00000636977.1:n.2551C=
ENST00000637050.1:n.1448C=
ENST00000637100.1:c.1006-3613C= ENSP00000490394.1:n.1006-3613C=
ENST00000637107.1:c.*583C= ENSP00000490248.1:n.*583C=
ENST00000637184.1:c.*89C= ENSP00000489952.1:n.*89C=
ENST00000637299.1:c.*868C= ENSP00000489823.1:n.*868C=
ENST00000637376.1:c.*89C= ENSP00000490758.1:n.*89C=
ENST00000637378.1:c.228+4230C= ENSP00000490831.1:n.228+4230C=
ENST00000637578.1:c.*583C= ENSP00000490206.1:n.*583C=
ENST00000637699.1:c.970C= ENSP00000490049.1:n.970C=
ENST00000637745.1:c.496C=
ENST00000637871.1:c.*757C= ENSP00000490670.1:n.*757C=
ENST00000638036.1:c.221C=