Canonical Allele Identifier: CA395346427

Gene: CLN3

Linked Data

• gnomAD v4: 16-28489313-T-A
• MyVariant Identifiers: chr16:g.28500634T>A (hg19) ; chr16:g.28489313T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28489313T>A , CM000678.2:g.28489313T>A	GRCh38
NC_000016.9:g.28500634T>A , CM000678.1:g.28500634T>A	GRCh37
NC_000016.8:g.28408135T>A	NCBI36
NG_008654.2:g.7990A>T , LRG_689:g.7990A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.199A>T	ENSP00000329171.9:p.Arg67Trp
ENST00000355477.10:c.199A>T	ENSP00000347660.7:p.Arg67Trp
ENST00000357857.14:c.37A>T	ENSP00000350523.9:p.Arg13Trp
ENST00000359984.12:c.199A>T	ENSP00000353073.9:p.Arg67Trp
ENST00000360019.8:c.199A>T	ENSP00000353116.3:p.Arg67Trp
ENST00000395653.9:c.37A>T	ENSP00000379014.5:p.Arg13Trp
ENST00000561505.2:c.37A>T	ENSP00000457615.2:p.Arg13Trp
ENST00000561689.6:n.484A>T
ENST00000565316.6:c.199A>T	ENSP00000456117.1:p.Arg67Trp
ENST00000565778.6:c.199A>T	ENSP00000458015.1:p.Arg67Trp
ENST00000566083.6:n.657A>T
ENST00000566824.6:n.179A>T
ENST00000567495.6:c.199A>T	ENSP00000456013.2:p.Arg67Trp
ENST00000567963.6:c.37A>T	ENSP00000455387.2:p.Arg13Trp
ENST00000568076.6:n.326A>T
ENST00000568422.6:c.199A>T	ENSP00000455549.2:p.Arg67Trp
ENST00000568443.2:c.352A>T	ENSP00000454899.2:p.Arg118Trp
ENST00000568452.6:n.302A>T
ENST00000568472.6:n.372A>T
ENST00000568497.6:c.-316A>T	ENSP00000456414.2:n.-316A>T
ENST00000568558.6:c.199A>T	ENSP00000455603.2:p.Arg67Trp
ENST00000569430.7:c.199A>T	ENSP00000454229.1:p.Arg67Trp
ENST00000628023.3:c.199A>T	ENSP00000486178.1:p.Arg67Trp
ENST00000635861.1:c.37A>T	ENSP00000490034.1:p.Arg13Trp
ENST00000635887.1:c.199A>T	ENSP00000490709.1:p.Arg67Trp
ENST00000635958.1:n.310A>T
ENST00000635973.1:c.126-1772A>T	ENSP00000490363.1:n.126-1772A>T
ENST00000636017.1:c.199A>T	ENSP00000490538.1:p.Arg67Trp
ENST00000636078.1:n.241A>T
ENST00000636147.2:c.199A>T MANE Select	ENSP00000490105.1:p.Arg67Trp
ENST00000636172.1:c.199A>T	ENSP00000490505.1:p.Arg67Trp
ENST00000636228.1:c.37A>T	ENSP00000489627.1:p.Arg13Trp
ENST00000636503.1:c.199A>T	ENSP00000489824.1:p.Arg67Trp
ENST00000636766.1:c.199A>T	ENSP00000489841.1:p.Arg67Trp
ENST00000636839.1:n.351A>T
ENST00000636853.1:n.275A>T
ENST00000636866.1:c.199A>T	ENSP00000490880.1:p.Arg67Trp
ENST00000636977.1:n.298A>T
ENST00000637100.1:c.199A>T	ENSP00000490394.1:p.Arg67Trp
ENST00000637107.1:c.352A>T	ENSP00000490248.1:p.Arg118Trp
ENST00000637184.1:c.199A>T	ENSP00000489952.1:p.Arg67Trp
ENST00000637299.1:c.*8A>T	ENSP00000489823.1:n.*8A>T
ENST00000637376.1:c.199A>T	ENSP00000490758.1:p.Arg67Trp
ENST00000637578.1:c.37A>T	ENSP00000490206.1:p.Arg13Trp
ENST00000637699.1:c.199A>T	ENSP00000490049.1:p.Arg67Trp
ENST00000637871.1:c.199A>T	ENSP00000490670.1:p.Arg67Trp
ENST00000637985.1:c.*138A>T	ENSP00000490932.1:n.*138A>T
ENST00000333496.13:c.199A>T	ENSP00000329171.9:p.Arg67Trp
ENST00000355477.9:c.199A>T	ENSP00000347660.6:p.Arg67Trp
ENST00000357806.11:c.199A>T	ENSP00000350457.7:p.Arg67Trp
ENST00000357857.13:c.37A>T	ENSP00000350523.9:p.Arg13Trp
ENST00000359984.11:c.37A>T	ENSP00000353073.8:p.Arg13Trp
ENST00000360019.6:c.199A>T	ENSP00000353116.2:p.Arg67Trp
ENST00000395653.8:c.-22A>T	ENSP00000379014.4:n.-22A>T
ENST00000561505.1:c.-22A>T	ENSP00000457615.1:n.-22A>T
ENST00000561689.5:n.120A>T
ENST00000563874.5:n.1553A>T
ENST00000564574.5:n.247A>T
ENST00000565047.1:n.114-651A>T
ENST00000565140.5:c.199A>T	ENSP00000455342.1:p.Arg67Trp
ENST00000565316.5:c.199A>T	ENSP00000456117.1:p.Arg67Trp
ENST00000565688.5:c.126-1772A>T	ENSP00000456122.1:n.126-1772A>T
ENST00000565778.5:c.199A>T	ENSP00000458015.1:p.Arg67Trp
ENST00000566057.5:c.126-1572A>T	ENSP00000456693.1:n.126-1572A>T
ENST00000566083.5:n.430A>T
ENST00000566824.5:n.328A>T
ENST00000567495.5:c.199A>T	ENSP00000456013.1:p.Arg67Trp
ENST00000567804.1:c.199A>T	ENSP00000455365.1:p.Arg67Trp
ENST00000567963.5:c.199A>T	ENSP00000455387.1:p.Arg67Trp
ENST00000568076.5:n.199A>T
ENST00000568224.4:c.37A>T	ENSP00000454253.1:p.Arg13Trp
ENST00000568422.5:c.-22A>T	ENSP00000455549.1:n.-22A>T
ENST00000568443.1:c.352A>T	ENSP00000454899.1:p.Arg118Trp
ENST00000568452.5:n.199A>T
ENST00000568472.5:n.134A>T
ENST00000568497.5:c.199A>T	ENSP00000456414.1:p.Arg67Trp
ENST00000568558.5:c.37A>T	ENSP00000455603.1:p.Arg13Trp
ENST00000569030.5:c.199A>T	ENSP00000454680.1:p.Arg67Trp
ENST00000569430.5:c.199A>T	ENSP00000454229.1:p.Arg67Trp
ENST00000628023.2:c.199A>T	ENSP00000486178.1:p.Arg67Trp
ENST00000631023.2:c.199A>T	ENSP00000486616.1:p.Arg67Trp
NM_000086.2:c.199A>T , LRG_689t1:c.199A>T	NP_000077.1:p.Arg67Trp
NM_001042432.1:c.199A>T , LRG_689t2:c.199A>T	NP_001035897.1:p.Arg67Trp
NM_001286104.1:c.199A>T	NP_001273033.1:p.Arg67Trp
NM_001286105.1:c.-22A>T	NP_001273034.1:n.-22A>T
NM_001286109.1:c.37A>T	NP_001273038.1:p.Arg13Trp
NM_001286110.1:c.37A>T	NP_001273039.1:p.Arg13Trp
NM_001042432.2:c.199A>T MANE Select	NP_001035897.1:p.Arg67Trp
NM_001286104.2:c.199A>T	NP_001273033.1:p.Arg67Trp
NM_001286105.2:c.-22A>T	NP_001273034.1:n.-22A>T
NM_001286109.2:c.37A>T	NP_001273038.1:p.Arg13Trp
NM_001286110.2:c.37A>T	NP_001273039.1:p.Arg13Trp