Canonical Allele Identifier: CA7630616

Gene: CLN6

Linked Data

• ClinVar Variation Id: 844641
• ClinVar RCV Id: RCV001047547
• dbSNP Id: rs759241838
• ExAC: 15:68504144 T / C
• gnomAD v2: 15-68504144-T-C
• gnomAD v3: 15-68211806-T-C
• gnomAD v4: 15-68211806-T-C
• MyVariant Identifiers: chr15:g.68504144T>C (hg19) ; chr15:g.68211806T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211806T>C , CM000677.2:g.68211806T>C	GRCh38
NC_000015.9:g.68504144T>C , CM000677.1:g.68504144T>C	GRCh37
NC_000015.8:g.66291198T>C	NCBI36
NG_008764.2:g.50406A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.355A>G MANE Select	ENSP00000249806.5:p.Ile119Val
ENST00000562767.2:c.84-14178A>G	ENSP00000456336.1:n.84-14178A>G
ENST00000563917.2:n.197A>G
ENST00000565471.6:c.84-2047A>G	ENSP00000457384.1:n.84-2047A>G
ENST00000635747.1:c.*258A>G	ENSP00000490627.1:n.*258A>G
ENST00000636212.1:c.298-65A>G	ENSP00000489851.1:n.298-65A>G
ENST00000636314.1:c.183-488A>G	ENSP00000490295.1:n.183-488A>G
ENST00000636674.1:n.1338A>G
ENST00000636964.1:n.1527A>G
ENST00000637054.1:c.198+6730A>G	ENSP00000490807.1:n.198+6730A>G
ENST00000637223.1:c.*201-488A>G	ENSP00000490010.1:n.*201-488A>G
ENST00000637329.1:c.324A>G
ENST00000637450.1:c.*9A>G	ENSP00000490204.1:n.*9A>G
ENST00000637494.1:c.199-488A>G	ENSP00000490057.1:n.199-488A>G
ENST00000637667.1:c.256A>G	ENSP00000489843.1:p.Ile86Val
ENST00000637823.1:c.224-163A>G
ENST00000637888.1:c.198+6730A>G	ENSP00000490546.1:n.198+6730A>G
ENST00000638076.1:c.355A>G	ENSP00000490373.1:p.Ile119Val
ENST00000638144.1:n.130-488A>G
ENST00000646164.1:c.38+6730A>G
ENST00000249806.9:c.355A>G	ENSP00000249806.5:p.Ile119Val
ENST00000538696.5:c.451A>G	ENSP00000445770.1:p.Ile151Val
ENST00000562767.1:c.84-14178A>G	ENSP00000456336.1:n.84-14178A>G
ENST00000563917.1:n.136A>G
ENST00000564752.1:c.355A>G	ENSP00000457822.1:p.Ile119Val
ENST00000565471.5:c.84-2047A>G	ENSP00000457384.1:n.84-2047A>G
ENST00000566347.5:c.298-488A>G	ENSP00000457783.1:n.298-488A>G
ENST00000567060.5:c.298-2086A>G	ENSP00000454818.1:n.298-2086A>G
NM_017882.2:c.355A>G	NP_060352.1:p.Ile119Val
XR_931861.1:n.458A>G
NM_017882.3:c.355A>G MANE Select	NP_060352.1:p.Ile119Val