Canonical Allele Identifier: CA395344174

Gene: CLN3

Linked Data

• MyVariant Identifiers: chr16:g.28493490A>G (hg19) ; chr16:g.28482169A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482169A>G , CM000678.2:g.28482169A>G	GRCh38
NC_000016.9:g.28493490A>G , CM000678.1:g.28493490A>G	GRCh37
NC_000016.8:g.28400991A>G	NCBI36
NG_008654.2:g.15134T>C , LRG_689:g.15134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.920T>C	ENSP00000329171.9:p.Phe307Ser
ENST00000355477.10:c.848T>C	ENSP00000347660.7:p.Phe283Ser
ENST00000357857.14:c.830T>C	ENSP00000350523.9:p.Phe277Ser
ENST00000359984.12:c.992T>C	ENSP00000353073.9:p.Phe331Ser
ENST00000360019.8:c.920T>C	ENSP00000353116.3:p.Phe307Ser
ENST00000395653.9:c.533T>C	ENSP00000379014.5:p.Phe178Ser
ENST00000561689.6:n.1405T>C
ENST00000564091.6:c.332T>C	ENSP00000454466.2:p.Phe111Ser
ENST00000565316.6:c.941T>C	ENSP00000456117.1:p.Phe314Ser
ENST00000566824.6:n.1052T>C
ENST00000567963.6:c.830T>C	ENSP00000455387.2:p.Phe277Ser
ENST00000568076.6:n.1421T>C
ENST00000568422.6:c.*229T>C	ENSP00000455549.2:n.*229T>C
ENST00000568452.6:n.1223T>C
ENST00000568497.6:c.23T>C	ENSP00000456414.2:p.Phe8Ser
ENST00000569430.7:c.992T>C	ENSP00000454229.1:p.Phe331Ser
ENST00000628023.3:c.*288T>C	ENSP00000486178.1:n.*288T>C
ENST00000635861.1:c.*644T>C	ENSP00000490034.1:n.*644T>C
ENST00000635887.1:c.992T>C	ENSP00000490709.1:p.Phe331Ser
ENST00000635958.1:n.1277T>C
ENST00000635973.1:c.743T>C	ENSP00000490363.1:p.Phe248Ser
ENST00000636017.1:c.*516T>C	ENSP00000490538.1:n.*516T>C
ENST00000636078.1:n.1114T>C
ENST00000636147.2:c.992T>C MANE Select	ENSP00000490105.1:p.Phe331Ser
ENST00000636172.1:c.*516T>C	ENSP00000490505.1:n.*516T>C
ENST00000636228.1:c.686T>C	ENSP00000489627.1:p.Phe229Ser
ENST00000636351.1:n.886T>C
ENST00000636503.1:c.992T>C	ENSP00000489824.1:p.Phe331Ser
ENST00000636685.1:n.673T>C
ENST00000636766.1:c.992T>C	ENSP00000489841.1:p.Phe331Ser
ENST00000636839.1:n.1366T>C
ENST00000636853.1:n.1907T>C
ENST00000636866.1:c.992T>C	ENSP00000490880.1:p.Phe331Ser
ENST00000636907.1:n.1143T>C
ENST00000636977.1:n.2362T>C
ENST00000637050.1:n.1381T>C
ENST00000637100.1:c.941T>C	ENSP00000490394.1:p.Phe314Ser
ENST00000637107.1:c.*516T>C	ENSP00000490248.1:n.*516T>C
ENST00000637184.1:c.992T>C	ENSP00000489952.1:p.Phe331Ser
ENST00000637299.1:c.*801T>C	ENSP00000489823.1:n.*801T>C
ENST00000637376.1:c.992T>C	ENSP00000490758.1:p.Phe331Ser
ENST00000637378.1:c.164T>C	ENSP00000490831.1:p.Phe55Ser
ENST00000637578.1:c.*516T>C	ENSP00000490206.1:n.*516T>C
ENST00000637699.1:c.903T>C	ENSP00000490049.1:n.903T>C
ENST00000637745.1:c.331T>C
ENST00000637871.1:c.*690T>C	ENSP00000490670.1:n.*690T>C
ENST00000638036.1:c.154T>C
ENST00000333496.13:c.920T>C	ENSP00000329171.9:p.Phe307Ser
ENST00000355477.9:c.*229T>C	ENSP00000347660.6:n.*229T>C
ENST00000357806.11:c.695T>C	ENSP00000350457.7:p.Phe232Ser
ENST00000357857.13:c.830T>C	ENSP00000350523.9:p.Phe277Ser
ENST00000359984.11:c.686T>C	ENSP00000353073.8:p.Phe229Ser
ENST00000360019.6:c.992T>C	ENSP00000353116.2:p.Phe331Ser
ENST00000395653.8:c.692T>C	ENSP00000379014.4:p.Phe231Ser
ENST00000561689.5:n.961T>C
ENST00000563874.5:n.2520T>C
ENST00000564091.5:c.81T>C
ENST00000565140.5:c.775T>C	ENSP00000455342.1:n.775T>C
ENST00000565316.5:c.941T>C	ENSP00000456117.1:p.Phe314Ser
ENST00000565354.5:n.305T>C
ENST00000566057.5:c.606T>C	ENSP00000456693.1:n.606T>C
ENST00000567963.5:c.906+308T>C	ENSP00000455387.1:n.906+308T>C
ENST00000568076.5:n.903T>C
ENST00000568224.4:c.758T>C	ENSP00000454253.1:p.Phe253Ser
ENST00000568422.5:c.*229T>C	ENSP00000455549.1:n.*229T>C
ENST00000568452.5:n.1120T>C
ENST00000568472.5:n.472T>C
ENST00000568558.5:c.533T>C	ENSP00000455603.1:p.Phe178Ser
ENST00000569030.5:c.662T>C	ENSP00000454680.1:p.Phe221Ser
ENST00000569430.5:c.992T>C	ENSP00000454229.1:p.Phe331Ser
ENST00000628023.2:c.*288T>C	ENSP00000486178.1:n.*288T>C
ENST00000631023.2:c.906+308T>C	ENSP00000486616.1:n.906+308T>C
NM_000086.2:c.992T>C , LRG_689t1:c.992T>C	NP_000077.1:p.Phe331Ser
NM_001042432.1:c.992T>C , LRG_689t2:c.992T>C	NP_001035897.1:p.Phe331Ser
NM_001286104.1:c.920T>C	NP_001273033.1:p.Phe307Ser
NM_001286105.1:c.692T>C	NP_001273034.1:p.Phe231Ser
NM_001286109.1:c.758T>C	NP_001273038.1:p.Phe253Ser
NM_001286110.1:c.830T>C	NP_001273039.1:p.Phe277Ser
NM_001042432.2:c.992T>C MANE Select	NP_001035897.1:p.Phe331Ser
NM_001286104.2:c.920T>C	NP_001273033.1:p.Phe307Ser
NM_001286105.2:c.692T>C	NP_001273034.1:p.Phe231Ser
NM_001286109.2:c.758T>C	NP_001273038.1:p.Phe253Ser
NM_001286110.2:c.830T>C	NP_001273039.1:p.Phe277Ser