Canonical Allele Identifier: CA395344725

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28495345C>G (hg19) ; chr16:g.28484024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484024C>G , CM000678.2:g.28484024C>G	GRCh38
NC_000016.9:g.28495345C>G , CM000678.1:g.28495345C>G	GRCh37
NC_000016.8:g.28402846C>G	NCBI36
NG_008654.2:g.13279G>C , LRG_689:g.13279G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.700G>C	ENSP00000329171.9:p.Ala234Pro
ENST00000355477.10:c.628G>C	ENSP00000347660.7:p.Ala210Pro
ENST00000357857.14:c.610G>C	ENSP00000350523.9:p.Ala204Pro
ENST00000359984.12:c.772G>C	ENSP00000353073.9:p.Ala258Pro
ENST00000360019.8:c.700G>C	ENSP00000353116.3:p.Ala234Pro
ENST00000395653.9:c.313G>C	ENSP00000379014.5:p.Ala105Pro
ENST00000561689.6:n.1057G>C
ENST00000564091.6:c.112G>C	ENSP00000454466.2:p.Ala38Pro
ENST00000565316.6:c.772G>C	ENSP00000456117.1:p.Ala258Pro
ENST00000565778.6:c.403G>C	ENSP00000458015.1:p.Ala135Pro
ENST00000566083.6:n.1230G>C
ENST00000566824.6:n.752G>C
ENST00000567963.6:c.610G>C	ENSP00000455387.2:p.Ala204Pro
ENST00000568076.6:n.899G>C
ENST00000568422.6:c.*9G>C	ENSP00000455549.2:n.*9G>C
ENST00000568452.6:n.875G>C
ENST00000568472.6:n.648G>C
ENST00000568497.6:c.-198G>C	ENSP00000456414.2:n.-198G>C
ENST00000568558.6:c.475G>C	ENSP00000455603.2:p.Ala159Pro
ENST00000569430.7:c.772G>C	ENSP00000454229.1:p.Ala258Pro
ENST00000628023.3:c.*68G>C	ENSP00000486178.1:n.*68G>C
ENST00000635861.1:c.*296G>C	ENSP00000490034.1:n.*296G>C
ENST00000635887.1:c.772G>C	ENSP00000490709.1:p.Ala258Pro
ENST00000635958.1:n.883G>C
ENST00000635973.1:c.523G>C	ENSP00000490363.1:p.Ala175Pro
ENST00000636017.1:c.*296G>C	ENSP00000490538.1:n.*296G>C
ENST00000636078.1:n.814G>C
ENST00000636147.2:c.772G>C MANE Select	ENSP00000490105.1:p.Ala258Pro
ENST00000636172.1:c.*296G>C	ENSP00000490505.1:n.*296G>C
ENST00000636228.1:c.466G>C	ENSP00000489627.1:p.Ala156Pro
ENST00000636351.1:n.492G>C
ENST00000636503.1:c.772G>C	ENSP00000489824.1:p.Ala258Pro
ENST00000636685.1:n.279G>C
ENST00000636766.1:c.772G>C	ENSP00000489841.1:p.Ala258Pro
ENST00000636839.1:n.924G>C
ENST00000636853.1:n.1687G>C
ENST00000636866.1:c.772G>C	ENSP00000490880.1:p.Ala258Pro
ENST00000636907.1:n.923G>C
ENST00000636977.1:n.1840G>C
ENST00000637050.1:n.859G>C
ENST00000637100.1:c.772G>C	ENSP00000490394.1:p.Ala258Pro
ENST00000637107.1:c.*296G>C	ENSP00000490248.1:n.*296G>C
ENST00000637184.1:c.772G>C	ENSP00000489952.1:p.Ala258Pro
ENST00000637299.1:c.*581G>C	ENSP00000489823.1:n.*581G>C
ENST00000637376.1:c.772G>C	ENSP00000490758.1:p.Ala258Pro
ENST00000637578.1:c.*296G>C	ENSP00000490206.1:n.*296G>C
ENST00000637699.1:c.555G>C	ENSP00000490049.1:n.555G>C
ENST00000637745.1:c.111G>C
ENST00000637871.1:c.*296G>C	ENSP00000490670.1:n.*296G>C
ENST00000333496.13:c.700G>C	ENSP00000329171.9:p.Ala234Pro
ENST00000355477.9:c.*9G>C	ENSP00000347660.6:n.*9G>C
ENST00000357806.11:c.475G>C	ENSP00000350457.7:p.Ala159Pro
ENST00000357857.13:c.610G>C	ENSP00000350523.9:p.Ala204Pro
ENST00000359984.11:c.466G>C	ENSP00000353073.8:p.Ala156Pro
ENST00000360019.6:c.772G>C	ENSP00000353116.2:p.Ala258Pro
ENST00000395653.8:c.472G>C	ENSP00000379014.4:p.Ala158Pro
ENST00000561689.5:n.613G>C
ENST00000563874.5:n.2126G>C
ENST00000564574.5:n.820G>C
ENST00000565047.1:n.366G>C
ENST00000565140.5:c.555G>C	ENSP00000455342.1:n.555G>C
ENST00000565316.5:c.772G>C	ENSP00000456117.1:p.Ala258Pro
ENST00000565688.5:c.523G>C	ENSP00000456122.1:p.Ala175Pro
ENST00000565778.5:c.403G>C	ENSP00000458015.1:p.Ala135Pro
ENST00000566057.5:c.386G>C	ENSP00000456693.1:n.386G>C
ENST00000566083.5:n.1003G>C
ENST00000566824.5:n.821G>C
ENST00000567495.5:c.*9G>C	ENSP00000456013.1:n.*9G>C
ENST00000567963.5:c.772G>C	ENSP00000455387.1:p.Ala258Pro
ENST00000568076.5:n.555G>C
ENST00000568224.4:c.538G>C	ENSP00000454253.1:p.Ala180Pro
ENST00000568422.5:c.*9G>C	ENSP00000455549.1:n.*9G>C
ENST00000568452.5:n.772G>C
ENST00000568472.5:n.252G>C
ENST00000568497.5:c.*68G>C	ENSP00000456414.1:n.*68G>C
ENST00000568558.5:c.313G>C	ENSP00000455603.1:p.Ala105Pro
ENST00000569030.5:c.461-1352G>C	ENSP00000454680.1:n.461-1352G>C
ENST00000569430.5:c.772G>C	ENSP00000454229.1:p.Ala258Pro
ENST00000628023.2:c.*68G>C	ENSP00000486178.1:n.*68G>C
ENST00000631023.2:c.772G>C	ENSP00000486616.1:p.Ala258Pro
NM_000086.2:c.772G>C , LRG_689t1:c.772G>C	NP_000077.1:p.Ala258Pro
NM_001042432.1:c.772G>C , LRG_689t2:c.772G>C	NP_001035897.1:p.Ala258Pro
NM_001286104.1:c.700G>C	NP_001273033.1:p.Ala234Pro
NM_001286105.1:c.472G>C	NP_001273034.1:p.Ala158Pro
NM_001286109.1:c.538G>C	NP_001273038.1:p.Ala180Pro
NM_001286110.1:c.610G>C	NP_001273039.1:p.Ala204Pro
NM_001042432.2:c.772G>C MANE Select	NP_001035897.1:p.Ala258Pro
NM_001286104.2:c.700G>C	NP_001273033.1:p.Ala234Pro
NM_001286105.2:c.472G>C	NP_001273034.1:p.Ala158Pro
NM_001286109.2:c.538G>C	NP_001273038.1:p.Ala180Pro
NM_001286110.2:c.610G>C	NP_001273039.1:p.Ala204Pro