Canonical Allele Identifier: CA392972376

Gene: CLN6

Linked Data

• ClinVar Variation Id: 977201
• ClinVar RCV Id: RCV001254802
• dbSNP Id: rs374271754
• MyVariant Identifiers: chr15:g.68500745G>C (hg19) ; chr15:g.68208407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208407G>C , CM000677.2:g.68208407G>C	GRCh38
NC_000015.9:g.68500745G>C , CM000677.1:g.68500745G>C	GRCh37
NC_000015.8:g.66287799G>C	NCBI36
NG_008764.2:g.53805C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.669C>G MANE Select	ENSP00000249806.5:p.Tyr223Ter
ENST00000562767.2:c.84-10779C>G	ENSP00000456336.1:n.84-10779C>G
ENST00000563917.2:n.511C>G
ENST00000565471.6:c.210C>G	ENSP00000457384.1:p.Tyr70Ter
ENST00000635747.1:c.*572C>G	ENSP00000490627.1:n.*572C>G
ENST00000636212.1:c.*339C>G	ENSP00000489851.1:n.*339C>G
ENST00000636674.1:n.1771C>G
ENST00000636964.1:n.2197C>G
ENST00000637054.1:c.198+10129C>G	ENSP00000490807.1:n.198+10129C>G
ENST00000637329.1:c.638C>G
ENST00000637450.1:c.*323C>G	ENSP00000490204.1:n.*323C>G
ENST00000637494.1:c.381C>G	ENSP00000490057.1:p.Tyr127Ter
ENST00000637667.1:c.570C>G	ENSP00000489843.1:p.Tyr190Ter
ENST00000637823.1:c.494C>G
ENST00000637888.1:c.198+10129C>G	ENSP00000490546.1:n.198+10129C>G
ENST00000638076.1:c.*272C>G	ENSP00000490373.1:n.*272C>G
ENST00000638144.1:n.312C>G
ENST00000646164.1:c.39-8726C>G
ENST00000249806.9:c.669C>G	ENSP00000249806.5:p.Tyr223Ter
ENST00000538696.5:c.765C>G	ENSP00000445770.1:p.Tyr255Ter
ENST00000562767.1:c.84-10779C>G	ENSP00000456336.1:n.84-10779C>G
ENST00000564752.1:c.*53C>G	ENSP00000457822.1:n.*53C>G
ENST00000565471.5:c.210C>G	ENSP00000457384.1:p.Tyr70Ter
ENST00000566347.5:c.480C>G	ENSP00000457783.1:p.Tyr160Ter
ENST00000567060.5:c.*67C>G	ENSP00000454818.1:n.*67C>G
NM_017882.2:c.669C>G	NP_060352.1:p.Tyr223Ter
XR_931861.1:n.891C>G
NM_017882.3:c.669C>G MANE Select	NP_060352.1:p.Tyr223Ter