Canonical Allele Identifier: CA395347509

Gene: CLN3

Linked Data

• ClinVar Variation Id: 1392621
• ClinVar RCV Id: RCV001896317
• dbSNP Id: rs2141722690
• MyVariant Identifiers: chr16:g.28503040G>A (hg19) ; chr16:g.28491719G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28491719G>A , CM000678.2:g.28491719G>A	GRCh38
NC_000016.9:g.28503040G>A , CM000678.1:g.28503040G>A	GRCh37
NC_000016.8:g.28410541G>A	NCBI36
NG_008654.2:g.5584C>T , LRG_689:g.5584C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.41C>T	ENSP00000329171.9:p.Ser14Phe
ENST00000355477.10:c.41C>T	ENSP00000347660.7:p.Ser14Phe
ENST00000357857.14:c.-43C>T	ENSP00000350523.9:n.-43C>T
ENST00000359984.12:c.41C>T	ENSP00000353073.9:p.Ser14Phe
ENST00000360019.8:c.41C>T	ENSP00000353116.3:p.Ser14Phe
ENST00000395653.9:c.-43C>T	ENSP00000379014.5:n.-43C>T
ENST00000561505.2:c.-43C>T	ENSP00000457615.2:n.-43C>T
ENST00000561689.6:n.326C>T
ENST00000565316.6:c.41C>T	ENSP00000456117.1:p.Ser14Phe
ENST00000565778.6:c.41C>T	ENSP00000458015.1:p.Ser14Phe
ENST00000566083.6:n.346C>T
ENST00000566824.6:n.21C>T
ENST00000567495.6:c.41C>T	ENSP00000456013.2:p.Ser14Phe
ENST00000567963.6:c.-43C>T	ENSP00000455387.2:n.-43C>T
ENST00000568076.6:n.168C>T
ENST00000568422.6:c.41C>T	ENSP00000455549.2:p.Ser14Phe
ENST00000568443.2:c.41C>T	ENSP00000454899.2:p.Ser14Phe
ENST00000568452.6:n.144C>T
ENST00000568472.6:n.293C>T
ENST00000568497.6:c.-395C>T	ENSP00000456414.2:n.-395C>T
ENST00000568558.6:c.41C>T	ENSP00000455603.2:p.Ser14Phe
ENST00000569430.7:c.41C>T	ENSP00000454229.1:p.Ser14Phe
ENST00000628023.3:c.41C>T	ENSP00000486178.1:p.Ser14Phe
ENST00000635861.1:c.-43C>T	ENSP00000490034.1:n.-43C>T
ENST00000635887.1:c.41C>T	ENSP00000490709.1:p.Ser14Phe
ENST00000635958.1:n.152C>T
ENST00000635973.1:c.41C>T	ENSP00000490363.1:p.Ser14Phe
ENST00000636017.1:c.41C>T	ENSP00000490538.1:p.Ser14Phe
ENST00000636078.1:n.83C>T
ENST00000636147.2:c.41C>T MANE Select	ENSP00000490105.1:p.Ser14Phe
ENST00000636172.1:c.41C>T	ENSP00000490505.1:p.Ser14Phe
ENST00000636228.1:c.-43C>T	ENSP00000489627.1:n.-43C>T
ENST00000636503.1:c.41C>T	ENSP00000489824.1:p.Ser14Phe
ENST00000636766.1:c.41C>T	ENSP00000489841.1:p.Ser14Phe
ENST00000636839.1:n.193C>T
ENST00000636853.1:n.117C>T
ENST00000636866.1:c.41C>T	ENSP00000490880.1:p.Ser14Phe
ENST00000636977.1:n.140C>T
ENST00000637100.1:c.41C>T	ENSP00000490394.1:p.Ser14Phe
ENST00000637107.1:c.41C>T	ENSP00000490248.1:p.Ser14Phe
ENST00000637184.1:c.41C>T	ENSP00000489952.1:p.Ser14Phe
ENST00000637299.1:c.41C>T	ENSP00000489823.1:p.Ser14Phe
ENST00000637376.1:c.41C>T	ENSP00000490758.1:p.Ser14Phe
ENST00000637578.1:c.-43C>T	ENSP00000490206.1:n.-43C>T
ENST00000637699.1:c.41C>T	ENSP00000490049.1:p.Ser14Phe
ENST00000637871.1:c.41C>T	ENSP00000490670.1:p.Ser14Phe
ENST00000637985.1:c.41C>T	ENSP00000490932.1:p.Ser14Phe
ENST00000333496.13:c.41C>T	ENSP00000329171.9:p.Ser14Phe
ENST00000355477.9:c.41C>T	ENSP00000347660.6:p.Ser14Phe
ENST00000357806.11:c.41C>T	ENSP00000350457.7:p.Ser14Phe
ENST00000357857.13:c.-43C>T	ENSP00000350523.9:n.-43C>T
ENST00000359984.11:c.-122C>T	ENSP00000353073.8:n.-122C>T
ENST00000360019.6:c.41C>T	ENSP00000353116.2:p.Ser14Phe
ENST00000395653.8:c.-101C>T	ENSP00000379014.4:n.-101C>T
ENST00000561505.1:c.-101C>T	ENSP00000457615.1:n.-101C>T
ENST00000561689.5:n.41C>T
ENST00000563874.5:n.1395C>T
ENST00000564574.5:n.168C>T
ENST00000565047.1:n.108C>T
ENST00000565140.5:c.41C>T	ENSP00000455342.1:p.Ser14Phe
ENST00000565236.1:n.324C>T
ENST00000565316.5:c.41C>T	ENSP00000456117.1:p.Ser14Phe
ENST00000565688.5:c.41C>T	ENSP00000456122.1:p.Ser14Phe
ENST00000565778.5:c.41C>T	ENSP00000458015.1:p.Ser14Phe
ENST00000566057.5:c.41C>T	ENSP00000456693.1:p.Ser14Phe
ENST00000566083.5:n.119C>T
ENST00000566824.5:n.170C>T
ENST00000567495.5:c.41C>T	ENSP00000456013.1:p.Ser14Phe
ENST00000567804.1:c.41C>T	ENSP00000455365.1:p.Ser14Phe
ENST00000567963.5:c.41C>T	ENSP00000455387.1:p.Ser14Phe
ENST00000568076.5:n.41C>T
ENST00000568224.4:c.-43C>T	ENSP00000454253.1:n.-43C>T
ENST00000568422.5:c.-101C>T	ENSP00000455549.1:n.-101C>T
ENST00000568443.1:c.41C>T	ENSP00000454899.1:p.Ser14Phe
ENST00000568452.5:n.41C>T
ENST00000568472.5:n.55C>T
ENST00000568497.5:c.41C>T	ENSP00000456414.1:p.Ser14Phe
ENST00000568558.5:c.-43C>T	ENSP00000455603.1:n.-43C>T
ENST00000569030.5:c.41C>T	ENSP00000454680.1:p.Ser14Phe
ENST00000569430.5:c.41C>T	ENSP00000454229.1:p.Ser14Phe
ENST00000628023.2:c.41C>T	ENSP00000486178.1:p.Ser14Phe
ENST00000631023.2:c.41C>T	ENSP00000486616.1:p.Ser14Phe
NM_000086.2:c.41C>T , LRG_689t1:c.41C>T	NP_000077.1:p.Ser14Phe
NM_001042432.1:c.41C>T , LRG_689t2:c.41C>T	NP_001035897.1:p.Ser14Phe
NM_001286104.1:c.41C>T	NP_001273033.1:p.Ser14Phe
NM_001286105.1:c.-101C>T	NP_001273034.1:n.-101C>T
NM_001286109.1:c.-43C>T	NP_001273038.1:n.-43C>T
NM_001286110.1:c.-43C>T	NP_001273039.1:n.-43C>T
NM_001042432.2:c.41C>T MANE Select	NP_001035897.1:p.Ser14Phe
NM_001286104.2:c.41C>T	NP_001273033.1:p.Ser14Phe
NM_001286105.2:c.-101C>T	NP_001273034.1:n.-101C>T
NM_001286109.2:c.-43C>T	NP_001273038.1:n.-43C>T
NM_001286110.2:c.-43C>T	NP_001273039.1:n.-43C>T