Canonical Allele Identifier: CA395343957

Gene: CLN3

Linked Data

• ClinVar Variation Id: 2022919
• ClinVar RCV Id: RCV002875721
• MyVariant Identifiers: chr16:g.28493439A>G (hg19) ; chr16:g.28482118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482118A>G , CM000678.2:g.28482118A>G	GRCh38
NC_000016.9:g.28493439A>G , CM000678.1:g.28493439A>G	GRCh37
NC_000016.8:g.28400940A>G	NCBI36
NG_008654.2:g.15185T>C , LRG_689:g.15185T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.971T>C	ENSP00000329171.9:p.Leu324Pro
ENST00000355477.10:c.899T>C	ENSP00000347660.7:p.Leu300Pro
ENST00000357857.14:c.881T>C	ENSP00000350523.9:p.Leu294Pro
ENST00000359984.12:c.1043T>C	ENSP00000353073.9:p.Leu348Pro
ENST00000360019.8:c.971T>C	ENSP00000353116.3:p.Leu324Pro
ENST00000395653.9:c.584T>C	ENSP00000379014.5:p.Leu195Pro
ENST00000561689.6:n.1456T>C
ENST00000564091.6:c.383T>C	ENSP00000454466.2:p.Leu128Pro
ENST00000565316.6:c.992T>C	ENSP00000456117.1:p.Leu331Pro
ENST00000566824.6:n.1103T>C
ENST00000567963.6:c.881T>C	ENSP00000455387.2:p.Leu294Pro
ENST00000568076.6:n.1472T>C
ENST00000568422.6:c.*280T>C	ENSP00000455549.2:n.*280T>C
ENST00000568452.6:n.1274T>C
ENST00000568497.6:c.74T>C	ENSP00000456414.2:p.Leu25Pro
ENST00000569430.7:c.1043T>C	ENSP00000454229.1:p.Leu348Pro
ENST00000628023.3:c.*339T>C	ENSP00000486178.1:n.*339T>C
ENST00000635861.1:c.*695T>C	ENSP00000490034.1:n.*695T>C
ENST00000635887.1:c.1043T>C	ENSP00000490709.1:p.Leu348Pro
ENST00000635958.1:n.1328T>C
ENST00000635973.1:c.794T>C	ENSP00000490363.1:p.Leu265Pro
ENST00000636017.1:c.*567T>C	ENSP00000490538.1:n.*567T>C
ENST00000636078.1:n.1165T>C
ENST00000636147.2:c.1043T>C MANE Select	ENSP00000490105.1:p.Leu348Pro
ENST00000636172.1:c.*567T>C	ENSP00000490505.1:n.*567T>C
ENST00000636228.1:c.737T>C	ENSP00000489627.1:p.Leu246Pro
ENST00000636351.1:n.937T>C
ENST00000636503.1:c.1043T>C	ENSP00000489824.1:p.Leu348Pro
ENST00000636685.1:n.724T>C
ENST00000636766.1:c.1043T>C	ENSP00000489841.1:p.Leu348Pro
ENST00000636839.1:n.1417T>C
ENST00000636853.1:n.1958T>C
ENST00000636866.1:c.1043T>C	ENSP00000490880.1:p.Leu348Pro
ENST00000636907.1:n.1194T>C
ENST00000636977.1:n.2413T>C
ENST00000637050.1:n.1432T>C
ENST00000637100.1:c.992T>C	ENSP00000490394.1:p.Leu331Pro
ENST00000637107.1:c.*567T>C	ENSP00000490248.1:n.*567T>C
ENST00000637184.1:c.1043T>C	ENSP00000489952.1:p.Leu348Pro
ENST00000637299.1:c.*852T>C	ENSP00000489823.1:n.*852T>C
ENST00000637376.1:c.1043T>C	ENSP00000490758.1:p.Leu348Pro
ENST00000637378.1:c.215T>C	ENSP00000490831.1:p.Leu72Pro
ENST00000637578.1:c.*567T>C	ENSP00000490206.1:n.*567T>C
ENST00000637699.1:c.954T>C	ENSP00000490049.1:n.954T>C
ENST00000637745.1:c.382T>C
ENST00000637871.1:c.*741T>C	ENSP00000490670.1:n.*741T>C
ENST00000638036.1:c.205T>C
ENST00000333496.13:c.971T>C	ENSP00000329171.9:p.Leu324Pro
ENST00000355477.9:c.*280T>C	ENSP00000347660.6:n.*280T>C
ENST00000357806.11:c.746T>C	ENSP00000350457.7:p.Leu249Pro
ENST00000357857.13:c.881T>C	ENSP00000350523.9:p.Leu294Pro
ENST00000359984.11:c.737T>C	ENSP00000353073.8:p.Leu246Pro
ENST00000360019.6:c.1043T>C	ENSP00000353116.2:p.Leu348Pro
ENST00000395653.8:c.743T>C	ENSP00000379014.4:p.Leu248Pro
ENST00000561689.5:n.1012T>C
ENST00000563874.5:n.2571T>C
ENST00000564091.5:c.132T>C
ENST00000565140.5:c.826T>C	ENSP00000455342.1:n.826T>C
ENST00000565316.5:c.992T>C	ENSP00000456117.1:p.Leu331Pro
ENST00000565354.5:n.356T>C
ENST00000566057.5:c.657T>C	ENSP00000456693.1:n.657T>C
ENST00000567963.5:c.906+359T>C	ENSP00000455387.1:n.906+359T>C
ENST00000568076.5:n.954T>C
ENST00000568224.4:c.809T>C	ENSP00000454253.1:p.Leu270Pro
ENST00000568422.5:c.*280T>C	ENSP00000455549.1:n.*280T>C
ENST00000568452.5:n.1171T>C
ENST00000569030.5:c.713T>C	ENSP00000454680.1:p.Leu238Pro
ENST00000569430.5:c.1043T>C	ENSP00000454229.1:p.Leu348Pro
ENST00000628023.2:c.*339T>C	ENSP00000486178.1:n.*339T>C
ENST00000631023.2:c.906+359T>C	ENSP00000486616.1:n.906+359T>C
NM_000086.2:c.1043T>C , LRG_689t1:c.1043T>C	NP_000077.1:p.Leu348Pro
NM_001042432.1:c.1043T>C , LRG_689t2:c.1043T>C	NP_001035897.1:p.Leu348Pro
NM_001286104.1:c.971T>C	NP_001273033.1:p.Leu324Pro
NM_001286105.1:c.743T>C	NP_001273034.1:p.Leu248Pro
NM_001286109.1:c.809T>C	NP_001273038.1:p.Leu270Pro
NM_001286110.1:c.881T>C	NP_001273039.1:p.Leu294Pro
NM_001042432.2:c.1043T>C MANE Select	NP_001035897.1:p.Leu348Pro
NM_001286104.2:c.971T>C	NP_001273033.1:p.Leu324Pro
NM_001286105.2:c.743T>C	NP_001273034.1:p.Leu248Pro
NM_001286109.2:c.809T>C	NP_001273038.1:p.Leu270Pro
NM_001286110.2:c.881T>C	NP_001273039.1:p.Leu294Pro