Canonical Allele Identifier: CA392972812

Gene: CLN6

Linked Data

• ClinVar Variation Id: 575137
• ClinVar RCV Id: RCV000697270
• dbSNP Id: rs1567095087
• gnomAD v4: 15-68209653-T-C
• MyVariant Identifiers: chr15:g.68501991T>C (hg19) ; chr15:g.68209653T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209653T>C , CM000677.2:g.68209653T>C	GRCh38
NC_000015.9:g.68501991T>C , CM000677.1:g.68501991T>C	GRCh37
NC_000015.8:g.66289045T>C	NCBI36
NG_008764.2:g.52559A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.649A>G MANE Select	ENSP00000249806.5:p.Ser217Gly
ENST00000562767.2:c.84-12025A>G	ENSP00000456336.1:n.84-12025A>G
ENST00000563917.2:n.491A>G
ENST00000565471.6:c.190A>G	ENSP00000457384.1:p.Ser64Gly
ENST00000635747.1:c.*552A>G	ENSP00000490627.1:n.*552A>G
ENST00000636212.1:c.*319A>G	ENSP00000489851.1:n.*319A>G
ENST00000636674.1:n.1751A>G
ENST00000636964.1:n.2177A>G
ENST00000637054.1:c.198+8883A>G	ENSP00000490807.1:n.198+8883A>G
ENST00000637329.1:c.618A>G
ENST00000637450.1:c.*303A>G	ENSP00000490204.1:n.*303A>G
ENST00000637494.1:c.361A>G	ENSP00000490057.1:p.Ser121Gly
ENST00000637667.1:c.550A>G	ENSP00000489843.1:p.Ser184Gly
ENST00000637823.1:c.474A>G
ENST00000637888.1:c.198+8883A>G	ENSP00000490546.1:n.198+8883A>G
ENST00000638076.1:c.*252A>G	ENSP00000490373.1:n.*252A>G
ENST00000638144.1:n.292A>G
ENST00000646164.1:c.38+8883A>G
ENST00000249806.9:c.649A>G	ENSP00000249806.5:p.Ser217Gly
ENST00000538696.5:c.745A>G	ENSP00000445770.1:p.Ser249Gly
ENST00000562767.1:c.84-12025A>G	ENSP00000456336.1:n.84-12025A>G
ENST00000563917.1:n.549A>G
ENST00000564752.1:c.*33A>G	ENSP00000457822.1:n.*33A>G
ENST00000565471.5:c.190A>G	ENSP00000457384.1:p.Ser64Gly
ENST00000566347.5:c.460A>G	ENSP00000457783.1:p.Ser154Gly
ENST00000567060.5:c.*47A>G	ENSP00000454818.1:n.*47A>G
NM_017882.2:c.649A>G	NP_060352.1:p.Ser217Gly
XR_931861.1:n.871A>G
NM_017882.3:c.649A>G MANE Select	NP_060352.1:p.Ser217Gly