Canonical Allele Identifier: CA2215676831
Community Standard Title: NM_001042432.2(CLN3):c.509T= (p.Leu170=)
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28486602A= , CM000678.2:g.28486602A= GRCh38
NC_000016.9:g.28497923A= , CM000678.1:g.28497923A= GRCh37
NC_000016.8:g.28405424A= NCBI36
NG_008654.2:g.10701T= , LRG_689:g.10701T=

Transcript Alleles

HGVS Amino-acid Change
NM_001042432.2:c.509T= MANE Select NP_001035897.1:p.Leu170=
ENST00000636147.2:c.509T= MANE Select ENSP00000490105.1:p.Leu170=
NM_000086.2:c.509T= , LRG_689t1:c.509T= NP_000077.1:p.Leu170=
NM_001042432.1:c.509T= , LRG_689t2:c.509T= NP_001035897.1:p.Leu170=
NM_001286104.1:c.437T= NP_001273033.1:p.Leu146=
NM_001286104.2:c.437T= NP_001273033.1:p.Leu146=
NM_001286105.1:c.209T= NP_001273034.1:p.Leu70=
NM_001286105.2:c.209T= NP_001273034.1:p.Leu70=
NM_001286109.1:c.275T= NP_001273038.1:p.Leu92=
NM_001286109.2:c.275T= NP_001273038.1:p.Leu92=
NM_001286110.1:c.347T= NP_001273039.1:p.Leu116=
NM_001286110.2:c.347T= NP_001273039.1:p.Leu116=
ENST00000333496.13:c.437T= ENSP00000329171.9:p.Leu146=
ENST00000333496.14:c.437T= ENSP00000329171.9:p.Leu146=
ENST00000355477.10:c.509T= ENSP00000347660.7:p.Leu170=
ENST00000355477.9:c.460+854T= ENSP00000347660.6:n.460+854T=
ENST00000357806.11:c.380+854T= ENSP00000350457.7:n.380+854T=
ENST00000357857.13:c.347T= ENSP00000350523.9:p.Leu116=
ENST00000357857.14:c.347T= ENSP00000350523.9:p.Leu116=
ENST00000359984.11:c.347T= ENSP00000353073.8:p.Leu116=
ENST00000359984.12:c.509T= ENSP00000353073.9:p.Leu170=
ENST00000360019.6:c.509T= ENSP00000353116.2:p.Leu170=
ENST00000360019.8:c.437T= ENSP00000353116.3:p.Leu146=
ENST00000395653.8:c.209T= ENSP00000379014.4:p.Leu70=
ENST00000395653.9:c.218+854T= ENSP00000379014.5:n.218+854T=
ENST00000561505.1:c.209T= ENSP00000457615.1:p.Leu70=
ENST00000561505.2:c.*33T= ENSP00000457615.2:n.*33T=
ENST00000561689.5:n.350T=
ENST00000561689.6:n.794T=
ENST00000563874.5:n.1863T=
ENST00000564574.5:n.557T=
ENST00000565047.1:n.271+854T=
ENST00000565140.5:c.460+854T= ENSP00000455342.1:n.460+854T=
ENST00000565316.5:c.509T= ENSP00000456117.1:p.Leu170=
ENST00000565316.6:c.509T= ENSP00000456117.1:p.Leu170=
ENST00000565688.5:c.260T= ENSP00000456122.1:p.Leu87=
ENST00000565778.5:c.308+854T= ENSP00000458015.1:n.308+854T=
ENST00000565778.6:c.308+854T= ENSP00000458015.1:n.308+854T=
ENST00000566057.5:c.291+854T= ENSP00000456693.1:n.291+854T=
ENST00000566083.5:n.740T=
ENST00000566083.6:n.967T=
ENST00000566824.5:n.558T=
ENST00000566824.6:n.489T=
ENST00000567495.5:c.460+854T= ENSP00000456013.1:n.460+854T=
ENST00000567495.6:c.461-112T= ENSP00000456013.2:n.461-112T=
ENST00000567963.5:c.509T= ENSP00000455387.1:p.Leu170=
ENST00000567963.6:c.347T= ENSP00000455387.2:p.Leu116=
ENST00000568076.5:n.460+854T=
ENST00000568076.6:n.636T=
ENST00000568224.4:c.275T= ENSP00000454253.1:p.Leu92=
ENST00000568422.5:c.289T= ENSP00000455549.1:p.Ser97=
ENST00000568422.6:c.460+854T= ENSP00000455549.2:n.460+854T=
ENST00000568443.2:c.662T= ENSP00000454899.2:p.Leu221=
ENST00000568452.5:n.509T=
ENST00000568452.6:n.612T=
ENST00000568472.5:n.158-2484T=
ENST00000568472.6:n.553+854T=
ENST00000568497.5:c.223-2484T= ENSP00000456414.1:n.223-2484T=
ENST00000568497.6:c.-292-2484T= ENSP00000456414.2:n.-292-2484T=
ENST00000568558.5:c.218+854T= ENSP00000455603.1:n.218+854T=
ENST00000568558.6:c.380+854T= ENSP00000455603.2:n.380+854T=
ENST00000569030.5:c.460+854T= ENSP00000454680.1:n.460+854T=
ENST00000569430.5:c.509T= ENSP00000454229.1:p.Leu170=
ENST00000569430.7:c.509T= ENSP00000454229.1:p.Leu170=
ENST00000628023.2:c.223-2484T= ENSP00000486178.1:n.223-2484T=
ENST00000628023.3:c.223-2484T= ENSP00000486178.1:n.223-2484T=
ENST00000631023.2:c.509T= ENSP00000486616.1:p.Leu170=
ENST00000635861.1:c.*33T= ENSP00000490034.1:n.*33T=
ENST00000635887.1:c.509T= ENSP00000490709.1:p.Leu170=
ENST00000635958.1:n.620T=
ENST00000635973.1:c.260T= ENSP00000490363.1:p.Leu87=
ENST00000636017.1:c.*33T= ENSP00000490538.1:n.*33T=
ENST00000636078.1:n.551T=
ENST00000636172.1:c.*33T= ENSP00000490505.1:n.*33T=
ENST00000636228.1:c.347T= ENSP00000489627.1:p.Leu116=
ENST00000636351.1:n.229T=
ENST00000636503.1:c.509T= ENSP00000489824.1:p.Leu170=
ENST00000636766.1:c.509T= ENSP00000489841.1:p.Leu170=
ENST00000636839.1:n.661T=
ENST00000636853.1:n.1390T=
ENST00000636866.1:c.509T= ENSP00000490880.1:p.Leu170=
ENST00000636977.1:n.1577T=
ENST00000637100.1:c.509T= ENSP00000490394.1:p.Leu170=
ENST00000637107.1:c.*33T= ENSP00000490248.1:n.*33T=
ENST00000637184.1:c.509T= ENSP00000489952.1:p.Leu170=
ENST00000637299.1:c.*318T= ENSP00000489823.1:n.*318T=
ENST00000637376.1:c.509T= ENSP00000490758.1:p.Leu170=
ENST00000637578.1:c.*33T= ENSP00000490206.1:n.*33T=
ENST00000637699.1:c.460+854T= ENSP00000490049.1:n.460+854T=
ENST00000637871.1:c.*33T= ENSP00000490670.1:n.*33T=
ENST00000637985.1:c.*448T= ENSP00000490932.1:n.*448T=