Canonical Allele Identifier: CA16041784

Gene: CLN3

Linked Data

• ClinVar Variation Id: 370675
• ClinVar RCV Id: RCV000410540 ; RCV000989587
• dbSNP Id: rs1057516677
• MyVariant Identifiers: chr16:g.28489196G>T (hg19) ; chr16:g.28477875G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.987C>A	ENSP00000329171.9:p.Cys329Ter
ENST00000355477.10:c.915C>A	ENSP00000347660.7:p.Cys305Ter
ENST00000357857.14:c.897C>A	ENSP00000350523.9:p.Cys299Ter
ENST00000359984.12:c.1059C>A	ENSP00000353073.9:p.Cys353Ter
ENST00000360019.8:c.987C>A	ENSP00000353116.3:p.Cys329Ter
ENST00000395653.9:c.600C>A	ENSP00000379014.5:p.Cys200Ter
ENST00000561689.6:n.1472C>A
ENST00000564091.6:c.399C>A	ENSP00000454466.2:p.Cys133Ter
ENST00000565316.6:c.1008C>A	ENSP00000456117.1:p.Cys336Ter
ENST00000566824.6:n.1241C>A
ENST00000567963.6:c.897C>A	ENSP00000455387.2:p.Cys299Ter
ENST00000568076.6:n.1488C>A
ENST00000568422.6:c.*296C>A	ENSP00000455549.2:n.*296C>A
ENST00000568452.6:n.1290C>A
ENST00000569430.7:c.1059C>A	ENSP00000454229.1:p.Cys353Ter
ENST00000628023.3:c.*355C>A	ENSP00000486178.1:n.*355C>A
ENST00000635861.1:c.*711C>A	ENSP00000490034.1:n.*711C>A
ENST00000635887.1:c.1059C>A	ENSP00000490709.1:p.Cys353Ter
ENST00000635958.1:n.1466C>A
ENST00000636017.1:c.*583C>A	ENSP00000490538.1:n.*583C>A
ENST00000636078.1:n.1181C>A
ENST00000636147.2:c.1059C>A MANE Select	ENSP00000490105.1:p.Cys353Ter
ENST00000636172.1:c.*583C>A	ENSP00000490505.1:n.*583C>A
ENST00000636228.1:c.753C>A	ENSP00000489627.1:p.Cys251Ter
ENST00000636351.1:n.953C>A
ENST00000636503.1:c.*89C>A	ENSP00000489824.1:n.*89C>A
ENST00000636685.1:n.740C>A
ENST00000636766.1:c.1059C>A	ENSP00000489841.1:p.Cys353Ter
ENST00000636839.1:n.1555C>A
ENST00000636853.1:n.2072C>A
ENST00000636866.1:c.1059C>A	ENSP00000490880.1:p.Cys353Ter
ENST00000636907.1:n.1210C>A
ENST00000636977.1:n.2551C>A
ENST00000637050.1:n.1448C>A
ENST00000637100.1:c.1006-3613C>A	ENSP00000490394.1:n.1006-3613C>A
ENST00000637107.1:c.*583C>A	ENSP00000490248.1:n.*583C>A
ENST00000637184.1:c.*89C>A	ENSP00000489952.1:n.*89C>A
ENST00000637299.1:c.*868C>A	ENSP00000489823.1:n.*868C>A
ENST00000637376.1:c.*89C>A	ENSP00000490758.1:n.*89C>A
ENST00000637378.1:c.228+4230C>A	ENSP00000490831.1:n.228+4230C>A
ENST00000637578.1:c.*583C>A	ENSP00000490206.1:n.*583C>A
ENST00000637699.1:c.970C>A	ENSP00000490049.1:n.970C>A
ENST00000637745.1:c.496C>A
ENST00000637871.1:c.*757C>A	ENSP00000490670.1:n.*757C>A
ENST00000638036.1:c.221C>A
ENST00000333496.13:c.987C>A	ENSP00000329171.9:p.Cys329Ter
ENST00000355477.9:c.*296C>A	ENSP00000347660.6:n.*296C>A
ENST00000357806.11:c.762C>A	ENSP00000350457.7:p.Cys254Ter
ENST00000357857.13:c.897C>A	ENSP00000350523.9:p.Cys299Ter
ENST00000359984.11:c.753C>A	ENSP00000353073.8:p.Cys251Ter
ENST00000360019.6:c.1059C>A	ENSP00000353116.2:p.Cys353Ter
ENST00000395653.8:c.759C>A	ENSP00000379014.4:p.Cys253Ter
ENST00000561689.5:n.1028C>A
ENST00000563874.5:n.2587C>A
ENST00000564091.5:c.148C>A
ENST00000565140.5:c.967C>A	ENSP00000455342.1:n.967C>A
ENST00000565316.5:c.1008C>A	ENSP00000456117.1:p.Cys336Ter
ENST00000565354.5:n.372C>A
ENST00000566057.5:c.673C>A	ENSP00000456693.1:n.673C>A
ENST00000567963.5:c.907-240C>A	ENSP00000455387.1:n.907-240C>A
ENST00000568076.5:n.970C>A
ENST00000568224.4:c.825C>A	ENSP00000454253.1:p.Cys275Ter
ENST00000568422.5:c.*296C>A	ENSP00000455549.1:n.*296C>A
ENST00000568452.5:n.1187C>A
ENST00000569030.5:c.851C>A	ENSP00000454680.1:n.851C>A
ENST00000569430.5:c.1059C>A	ENSP00000454229.1:p.Cys353Ter
ENST00000628023.2:c.*355C>A	ENSP00000486178.1:n.*355C>A
ENST00000631023.2:c.907-240C>A	ENSP00000486616.1:n.907-240C>A
NM_000086.2:c.1059C>A , LRG_689t1:c.1059C>A	NP_000077.1:p.Cys353Ter
NM_001042432.1:c.1059C>A , LRG_689t2:c.1059C>A	NP_001035897.1:p.Cys353Ter
NM_001286104.1:c.987C>A	NP_001273033.1:p.Cys329Ter
NM_001286105.1:c.759C>A	NP_001273034.1:p.Cys253Ter
NM_001286109.1:c.825C>A	NP_001273038.1:p.Cys275Ter
NM_001286110.1:c.897C>A	NP_001273039.1:p.Cys299Ter
NM_001042432.2:c.1059C>A MANE Select	NP_001035897.1:p.Cys353Ter
NM_001286104.2:c.987C>A	NP_001273033.1:p.Cys329Ter
NM_001286105.2:c.759C>A	NP_001273034.1:p.Cys253Ter
NM_001286109.2:c.825C>A	NP_001273038.1:p.Cys275Ter
NM_001286110.2:c.897C>A	NP_001273039.1:p.Cys299Ter