Canonical Allele Identifier: CA494268723

Gene: CLN3

Linked Data

• gnomAD v4: 16-28482119-G-A
• MyVariant Identifiers: chr16:g.28493440G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482119G>A , CM000678.2:g.28482119G>A	GRCh38
NC_000016.9:g.28493440G>A , CM000678.1:g.28493440G>A	GRCh37
NC_000016.8:g.28400941G>A	NCBI36
NG_008654.2:g.15184C>T , LRG_689:g.15184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.970C>T	ENSP00000329171.9:p.Leu324=
ENST00000355477.10:c.898C>T	ENSP00000347660.7:p.Leu300=
ENST00000357857.14:c.880C>T	ENSP00000350523.9:p.Leu294=
ENST00000359984.12:c.1042C>T	ENSP00000353073.9:p.Leu348=
ENST00000360019.8:c.970C>T	ENSP00000353116.3:p.Leu324=
ENST00000395653.9:c.583C>T	ENSP00000379014.5:p.Leu195=
ENST00000561689.6:n.1455C>T
ENST00000564091.6:c.382C>T	ENSP00000454466.2:p.Leu128=
ENST00000565316.6:c.991C>T	ENSP00000456117.1:p.Leu331=
ENST00000566824.6:n.1102C>T
ENST00000567963.6:c.880C>T	ENSP00000455387.2:p.Leu294=
ENST00000568076.6:n.1471C>T
ENST00000568422.6:c.*279C>T	ENSP00000455549.2:n.*279C>T
ENST00000568452.6:n.1273C>T
ENST00000568497.6:c.73C>T	ENSP00000456414.2:p.Leu25=
ENST00000569430.7:c.1042C>T	ENSP00000454229.1:p.Leu348=
ENST00000628023.3:c.*338C>T	ENSP00000486178.1:n.*338C>T
ENST00000635861.1:c.*694C>T	ENSP00000490034.1:n.*694C>T
ENST00000635887.1:c.1042C>T	ENSP00000490709.1:p.Leu348=
ENST00000635958.1:n.1327C>T
ENST00000635973.1:c.793C>T	ENSP00000490363.1:p.Leu265=
ENST00000636017.1:c.*566C>T	ENSP00000490538.1:n.*566C>T
ENST00000636078.1:n.1164C>T
ENST00000636147.2:c.1042C>T MANE Select	ENSP00000490105.1:p.Leu348=
ENST00000636172.1:c.*566C>T	ENSP00000490505.1:n.*566C>T
ENST00000636228.1:c.736C>T	ENSP00000489627.1:p.Leu246=
ENST00000636351.1:n.936C>T
ENST00000636503.1:c.1042C>T	ENSP00000489824.1:p.Leu348=
ENST00000636685.1:n.723C>T
ENST00000636766.1:c.1042C>T	ENSP00000489841.1:p.Leu348=
ENST00000636839.1:n.1416C>T
ENST00000636853.1:n.1957C>T
ENST00000636866.1:c.1042C>T	ENSP00000490880.1:p.Leu348=
ENST00000636907.1:n.1193C>T
ENST00000636977.1:n.2412C>T
ENST00000637050.1:n.1431C>T
ENST00000637100.1:c.991C>T	ENSP00000490394.1:p.Leu331=
ENST00000637107.1:c.*566C>T	ENSP00000490248.1:n.*566C>T
ENST00000637184.1:c.1042C>T	ENSP00000489952.1:p.Leu348=
ENST00000637299.1:c.*851C>T	ENSP00000489823.1:n.*851C>T
ENST00000637376.1:c.1042C>T	ENSP00000490758.1:p.Leu348=
ENST00000637378.1:c.214C>T	ENSP00000490831.1:p.Leu72=
ENST00000637578.1:c.*566C>T	ENSP00000490206.1:n.*566C>T
ENST00000637699.1:c.953C>T	ENSP00000490049.1:n.953C>T
ENST00000637745.1:c.381C>T
ENST00000637871.1:c.*740C>T	ENSP00000490670.1:n.*740C>T
ENST00000638036.1:c.204C>T
ENST00000333496.13:c.970C>T	ENSP00000329171.9:p.Leu324=
ENST00000355477.9:c.*279C>T	ENSP00000347660.6:n.*279C>T
ENST00000357806.11:c.745C>T	ENSP00000350457.7:p.Leu249=
ENST00000357857.13:c.880C>T	ENSP00000350523.9:p.Leu294=
ENST00000359984.11:c.736C>T	ENSP00000353073.8:p.Leu246=
ENST00000360019.6:c.1042C>T	ENSP00000353116.2:p.Leu348=
ENST00000395653.8:c.742C>T	ENSP00000379014.4:p.Leu248=
ENST00000561689.5:n.1011C>T
ENST00000563874.5:n.2570C>T
ENST00000564091.5:c.131C>T
ENST00000565140.5:c.825C>T	ENSP00000455342.1:n.825C>T
ENST00000565316.5:c.991C>T	ENSP00000456117.1:p.Leu331=
ENST00000565354.5:n.355C>T
ENST00000566057.5:c.656C>T	ENSP00000456693.1:n.656C>T
ENST00000567963.5:c.906+358C>T	ENSP00000455387.1:n.906+358C>T
ENST00000568076.5:n.953C>T
ENST00000568224.4:c.808C>T	ENSP00000454253.1:p.Leu270=
ENST00000568422.5:c.*279C>T	ENSP00000455549.1:n.*279C>T
ENST00000568452.5:n.1170C>T
ENST00000569030.5:c.712C>T	ENSP00000454680.1:p.Leu238=
ENST00000569430.5:c.1042C>T	ENSP00000454229.1:p.Leu348=
ENST00000628023.2:c.*338C>T	ENSP00000486178.1:n.*338C>T
ENST00000631023.2:c.906+358C>T	ENSP00000486616.1:n.906+358C>T
NM_000086.2:c.1042C>T , LRG_689t1:c.1042C>T	NP_000077.1:p.Leu348=
NM_001042432.1:c.1042C>T , LRG_689t2:c.1042C>T	NP_001035897.1:p.Leu348=
NM_001286104.1:c.970C>T	NP_001273033.1:p.Leu324=
NM_001286105.1:c.742C>T	NP_001273034.1:p.Leu248=
NM_001286109.1:c.808C>T	NP_001273038.1:p.Leu270=
NM_001286110.1:c.880C>T	NP_001273039.1:p.Leu294=
NM_001042432.2:c.1042C>T MANE Select	NP_001035897.1:p.Leu348=
NM_001286104.2:c.970C>T	NP_001273033.1:p.Leu324=
NM_001286105.2:c.742C>T	NP_001273034.1:p.Leu248=
NM_001286109.2:c.808C>T	NP_001273038.1:p.Leu270=
NM_001286110.2:c.880C>T	NP_001273039.1:p.Leu294=