Canonical Allele Identifier: CA7980905
Community Standard Title: NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28486647A>C , CM000678.2:g.28486647A>C GRCh38
NC_000016.9:g.28497968A>C , CM000678.1:g.28497968A>C GRCh37
NC_000016.8:g.28405469A>C NCBI36
NG_008654.2:g.10656T>G , LRG_689:g.10656T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042432.2:c.464T>G MANE Select NP_001035897.1:p.Val155Gly
ENST00000636147.2:c.464T>G MANE Select ENSP00000490105.1:p.Val155Gly
NM_000086.2:c.464T>G , LRG_689t1:c.464T>G NP_000077.1:p.Val155Gly
NM_001042432.1:c.464T>G , LRG_689t2:c.464T>G NP_001035897.1:p.Val155Gly
NM_001286104.1:c.392T>G NP_001273033.1:p.Val131Gly
NM_001286104.2:c.392T>G NP_001273033.1:p.Val131Gly
NM_001286105.1:c.164T>G NP_001273034.1:p.Val55Gly
NM_001286105.2:c.164T>G NP_001273034.1:p.Val55Gly
NM_001286109.1:c.230T>G NP_001273038.1:p.Val77Gly
NM_001286109.2:c.230T>G NP_001273038.1:p.Val77Gly
NM_001286110.1:c.302T>G NP_001273039.1:p.Val101Gly
NM_001286110.2:c.302T>G NP_001273039.1:p.Val101Gly
ENST00000333496.13:c.392T>G ENSP00000329171.9:p.Val131Gly
ENST00000333496.14:c.392T>G ENSP00000329171.9:p.Val131Gly
ENST00000355477.10:c.464T>G ENSP00000347660.7:p.Val155Gly
ENST00000355477.9:c.460+809T>G ENSP00000347660.6:n.460+809T>G
ENST00000357806.11:c.380+809T>G ENSP00000350457.7:n.380+809T>G
ENST00000357857.13:c.302T>G ENSP00000350523.9:p.Val101Gly
ENST00000357857.14:c.302T>G ENSP00000350523.9:p.Val101Gly
ENST00000359984.11:c.302T>G ENSP00000353073.8:p.Val101Gly
ENST00000359984.12:c.464T>G ENSP00000353073.9:p.Val155Gly
ENST00000360019.6:c.464T>G ENSP00000353116.2:p.Val155Gly
ENST00000360019.8:c.392T>G ENSP00000353116.3:p.Val131Gly
ENST00000395653.8:c.164T>G ENSP00000379014.4:p.Val55Gly
ENST00000395653.9:c.218+809T>G ENSP00000379014.5:n.218+809T>G
ENST00000561505.1:c.164T>G ENSP00000457615.1:p.Val55Gly
ENST00000561505.2:c.150T>G ENSP00000457615.2:p.Cys50Trp
ENST00000561689.5:n.305T>G
ENST00000561689.6:n.749T>G
ENST00000563874.5:n.1818T>G
ENST00000564574.5:n.512T>G
ENST00000565047.1:n.271+809T>G
ENST00000565140.5:c.460+809T>G ENSP00000455342.1:n.460+809T>G
ENST00000565316.5:c.464T>G ENSP00000456117.1:p.Val155Gly
ENST00000565316.6:c.464T>G ENSP00000456117.1:p.Val155Gly
ENST00000565688.5:c.215T>G ENSP00000456122.1:p.Val72Gly
ENST00000565778.5:c.308+809T>G ENSP00000458015.1:n.308+809T>G
ENST00000565778.6:c.308+809T>G ENSP00000458015.1:n.308+809T>G
ENST00000566057.5:c.291+809T>G ENSP00000456693.1:n.291+809T>G
ENST00000566083.5:n.695T>G
ENST00000566083.6:n.922T>G
ENST00000566824.5:n.513T>G
ENST00000566824.6:n.444T>G
ENST00000567495.5:c.460+809T>G ENSP00000456013.1:n.460+809T>G
ENST00000567495.6:c.461-157T>G ENSP00000456013.2:n.461-157T>G
ENST00000567963.5:c.464T>G ENSP00000455387.1:p.Val155Gly
ENST00000567963.6:c.302T>G ENSP00000455387.2:p.Val101Gly
ENST00000568076.5:n.460+809T>G
ENST00000568076.6:n.591T>G
ENST00000568224.4:c.230T>G ENSP00000454253.1:p.Val77Gly
ENST00000568422.5:c.244T>G ENSP00000455549.1:p.Trp82Gly
ENST00000568422.6:c.460+809T>G ENSP00000455549.2:n.460+809T>G
ENST00000568443.2:c.617T>G ENSP00000454899.2:p.Val206Gly
ENST00000568452.5:n.464T>G
ENST00000568452.6:n.567T>G
ENST00000568472.5:n.158-2529T>G
ENST00000568472.6:n.553+809T>G
ENST00000568497.5:c.223-2529T>G ENSP00000456414.1:n.223-2529T>G
ENST00000568497.6:c.-292-2529T>G ENSP00000456414.2:n.-292-2529T>G
ENST00000568558.5:c.218+809T>G ENSP00000455603.1:n.218+809T>G
ENST00000568558.6:c.380+809T>G ENSP00000455603.2:n.380+809T>G
ENST00000569030.5:c.460+809T>G ENSP00000454680.1:n.460+809T>G
ENST00000569430.5:c.464T>G ENSP00000454229.1:p.Val155Gly
ENST00000569430.7:c.464T>G ENSP00000454229.1:p.Val155Gly
ENST00000628023.2:c.223-2529T>G ENSP00000486178.1:n.223-2529T>G
ENST00000628023.3:c.223-2529T>G ENSP00000486178.1:n.223-2529T>G
ENST00000631023.2:c.464T>G ENSP00000486616.1:p.Val155Gly
ENST00000635861.1:c.222T>G ENSP00000490034.1:p.Cys74Trp
ENST00000635887.1:c.464T>G ENSP00000490709.1:p.Val155Gly
ENST00000635958.1:n.575T>G
ENST00000635973.1:c.215T>G ENSP00000490363.1:p.Val72Gly
ENST00000636017.1:c.384T>G ENSP00000490538.1:p.Cys128Trp
ENST00000636078.1:n.506T>G
ENST00000636172.1:c.384T>G ENSP00000490505.1:p.Cys128Trp
ENST00000636228.1:c.302T>G ENSP00000489627.1:p.Val101Gly
ENST00000636351.1:n.184T>G
ENST00000636503.1:c.464T>G ENSP00000489824.1:p.Val155Gly
ENST00000636766.1:c.464T>G ENSP00000489841.1:p.Val155Gly
ENST00000636839.1:n.616T>G
ENST00000636853.1:n.1345T>G
ENST00000636866.1:c.464T>G ENSP00000490880.1:p.Val155Gly
ENST00000636977.1:n.1532T>G
ENST00000637100.1:c.464T>G ENSP00000490394.1:p.Val155Gly
ENST00000637107.1:c.537T>G ENSP00000490248.1:p.Cys179Trp
ENST00000637184.1:c.464T>G ENSP00000489952.1:p.Val155Gly
ENST00000637299.1:c.*273T>G ENSP00000489823.1:n.*273T>G
ENST00000637376.1:c.464T>G ENSP00000490758.1:p.Val155Gly
ENST00000637578.1:c.222T>G ENSP00000490206.1:p.Cys74Trp
ENST00000637699.1:c.460+809T>G ENSP00000490049.1:n.460+809T>G
ENST00000637871.1:c.384T>G ENSP00000490670.1:p.Cys128Trp
ENST00000637985.1:c.*403T>G ENSP00000490932.1:n.*403T>G