Canonical Allele Identifier: CA494270583

Gene: CLN3

Linked Data

• gnomAD v4: 16-28482507-G-A
• MyVariant Identifiers: chr16:g.28493828G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482507G>A , CM000678.2:g.28482507G>A	GRCh38
NC_000016.9:g.28493828G>A , CM000678.1:g.28493828G>A	GRCh37
NC_000016.8:g.28401329G>A	NCBI36
NG_008654.2:g.14796C>T , LRG_689:g.14796C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.804C>T	ENSP00000329171.9:p.Tyr268=
ENST00000355477.10:c.732C>T	ENSP00000347660.7:p.Tyr244=
ENST00000357857.14:c.714C>T	ENSP00000350523.9:p.Tyr238=
ENST00000359984.12:c.876C>T	ENSP00000353073.9:p.Tyr292=
ENST00000360019.8:c.804C>T	ENSP00000353116.3:p.Tyr268=
ENST00000395653.9:c.417C>T	ENSP00000379014.5:p.Tyr139=
ENST00000561689.6:n.1161C>T
ENST00000564091.6:c.216C>T	ENSP00000454466.2:p.Tyr72=
ENST00000565316.6:c.855+101C>T	ENSP00000456117.1:n.855+101C>T
ENST00000566824.6:n.936C>T
ENST00000567963.6:c.714C>T	ENSP00000455387.2:p.Tyr238=
ENST00000568076.6:n.1083C>T
ENST00000568422.6:c.*113C>T	ENSP00000455549.2:n.*113C>T
ENST00000568452.6:n.979C>T
ENST00000568472.6:n.832C>T
ENST00000568497.6:c.-94C>T	ENSP00000456414.2:n.-94C>T
ENST00000569430.7:c.876C>T	ENSP00000454229.1:p.Tyr292=
ENST00000628023.3:c.*172C>T	ENSP00000486178.1:n.*172C>T
ENST00000635861.1:c.*400C>T	ENSP00000490034.1:n.*400C>T
ENST00000635887.1:c.876C>T	ENSP00000490709.1:p.Tyr292=
ENST00000635958.1:n.1067C>T
ENST00000635973.1:c.627C>T	ENSP00000490363.1:p.Tyr209=
ENST00000636017.1:c.*400C>T	ENSP00000490538.1:n.*400C>T
ENST00000636078.1:n.998C>T
ENST00000636147.2:c.876C>T MANE Select	ENSP00000490105.1:p.Tyr292=
ENST00000636172.1:c.*400C>T	ENSP00000490505.1:n.*400C>T
ENST00000636228.1:c.570C>T	ENSP00000489627.1:p.Tyr190=
ENST00000636351.1:n.676C>T
ENST00000636503.1:c.876C>T	ENSP00000489824.1:p.Tyr292=
ENST00000636685.1:n.463C>T
ENST00000636766.1:c.876C>T	ENSP00000489841.1:p.Tyr292=
ENST00000636839.1:n.1028C>T
ENST00000636853.1:n.1791C>T
ENST00000636866.1:c.876C>T	ENSP00000490880.1:p.Tyr292=
ENST00000636907.1:n.1027C>T
ENST00000636977.1:n.2024C>T
ENST00000637050.1:n.1043C>T
ENST00000637100.1:c.855+101C>T	ENSP00000490394.1:n.855+101C>T
ENST00000637107.1:c.*400C>T	ENSP00000490248.1:n.*400C>T
ENST00000637184.1:c.876C>T	ENSP00000489952.1:p.Tyr292=
ENST00000637299.1:c.*685C>T	ENSP00000489823.1:n.*685C>T
ENST00000637376.1:c.876C>T	ENSP00000490758.1:p.Tyr292=
ENST00000637378.1:c.48C>T	ENSP00000490831.1:p.Tyr16=
ENST00000637578.1:c.*400C>T	ENSP00000490206.1:n.*400C>T
ENST00000637699.1:c.659C>T	ENSP00000490049.1:n.659C>T
ENST00000637745.1:c.215C>T
ENST00000637871.1:c.*480C>T	ENSP00000490670.1:n.*480C>T
ENST00000638036.1:c.38C>T
ENST00000333496.13:c.804C>T	ENSP00000329171.9:p.Tyr268=
ENST00000355477.9:c.*113C>T	ENSP00000347660.6:n.*113C>T
ENST00000357806.11:c.579C>T	ENSP00000350457.7:p.Tyr193=
ENST00000357857.13:c.714C>T	ENSP00000350523.9:p.Tyr238=
ENST00000359984.11:c.570C>T	ENSP00000353073.8:p.Tyr190=
ENST00000360019.6:c.876C>T	ENSP00000353116.2:p.Tyr292=
ENST00000395653.8:c.576C>T	ENSP00000379014.4:p.Tyr192=
ENST00000561689.5:n.717C>T
ENST00000563874.5:n.2310C>T
ENST00000564574.5:n.924C>T
ENST00000565140.5:c.659C>T	ENSP00000455342.1:n.659C>T
ENST00000565316.5:c.855+101C>T	ENSP00000456117.1:n.855+101C>T
ENST00000565354.5:n.95C>T
ENST00000566057.5:c.490C>T	ENSP00000456693.1:n.490C>T
ENST00000566824.5:n.1005C>T
ENST00000567495.5:c.*113C>T	ENSP00000456013.1:n.*113C>T
ENST00000567963.5:c.876C>T	ENSP00000455387.1:p.Tyr292=
ENST00000568076.5:n.659C>T
ENST00000568224.4:c.642C>T	ENSP00000454253.1:p.Tyr214=
ENST00000568422.5:c.*113C>T	ENSP00000455549.1:n.*113C>T
ENST00000568452.5:n.876C>T
ENST00000568472.5:n.356C>T
ENST00000568497.5:c.*172C>T	ENSP00000456414.1:n.*172C>T
ENST00000568558.5:c.417C>T	ENSP00000455603.1:p.Tyr139=
ENST00000569030.5:c.546C>T	ENSP00000454680.1:p.Tyr182=
ENST00000569430.5:c.876C>T	ENSP00000454229.1:p.Tyr292=
ENST00000628023.2:c.*172C>T	ENSP00000486178.1:n.*172C>T
ENST00000631023.2:c.876C>T	ENSP00000486616.1:p.Tyr292=
NM_000086.2:c.876C>T , LRG_689t1:c.876C>T	NP_000077.1:p.Tyr292=
NM_001042432.1:c.876C>T , LRG_689t2:c.876C>T	NP_001035897.1:p.Tyr292=
NM_001286104.1:c.804C>T	NP_001273033.1:p.Tyr268=
NM_001286105.1:c.576C>T	NP_001273034.1:p.Tyr192=
NM_001286109.1:c.642C>T	NP_001273038.1:p.Tyr214=
NM_001286110.1:c.714C>T	NP_001273039.1:p.Tyr238=
NM_001042432.2:c.876C>T MANE Select	NP_001035897.1:p.Tyr292=
NM_001286104.2:c.804C>T	NP_001273033.1:p.Tyr268=
NM_001286105.2:c.576C>T	NP_001273034.1:p.Tyr192=
NM_001286109.2:c.642C>T	NP_001273038.1:p.Tyr214=
NM_001286110.2:c.714C>T	NP_001273039.1:p.Tyr238=