Canonical Allele Identifier: CA16603218

Gene: CLN6

Linked Data

• ClinVar Variation Id: 376954
• ClinVar RCV Id: RCV000427343
• dbSNP Id: rs1057520095
• MyVariant Identifiers: chr15:g.68500732C>T (hg19) ; chr15:g.68208394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208394C>T , CM000677.2:g.68208394C>T	GRCh38
NC_000015.9:g.68500732C>T , CM000677.1:g.68500732C>T	GRCh37
NC_000015.8:g.66287786C>T	NCBI36
NG_008764.2:g.53818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.682G>A MANE Select	ENSP00000249806.5:p.Gly228Ser
ENST00000562767.2:c.84-10766G>A	ENSP00000456336.1:n.84-10766G>A
ENST00000563917.2:n.524G>A
ENST00000565471.6:c.223G>A	ENSP00000457384.1:p.Gly75Ser
ENST00000635747.1:c.*585G>A	ENSP00000490627.1:n.*585G>A
ENST00000636212.1:c.*352G>A	ENSP00000489851.1:n.*352G>A
ENST00000636674.1:n.1784G>A
ENST00000636964.1:n.2210G>A
ENST00000637054.1:c.198+10142G>A	ENSP00000490807.1:n.198+10142G>A
ENST00000637329.1:c.651G>A
ENST00000637450.1:c.*336G>A	ENSP00000490204.1:n.*336G>A
ENST00000637494.1:c.394G>A	ENSP00000490057.1:p.Gly132Ser
ENST00000637667.1:c.583G>A	ENSP00000489843.1:p.Gly195Ser
ENST00000637823.1:c.507G>A
ENST00000637888.1:c.198+10142G>A	ENSP00000490546.1:n.198+10142G>A
ENST00000638076.1:c.*285G>A	ENSP00000490373.1:n.*285G>A
ENST00000638144.1:n.325G>A
ENST00000646164.1:c.39-8713G>A
ENST00000249806.9:c.682G>A	ENSP00000249806.5:p.Gly228Ser
ENST00000538696.5:c.778G>A	ENSP00000445770.1:p.Gly260Ser
ENST00000562767.1:c.84-10766G>A	ENSP00000456336.1:n.84-10766G>A
ENST00000564752.1:c.*66G>A	ENSP00000457822.1:n.*66G>A
ENST00000565471.5:c.223G>A	ENSP00000457384.1:p.Gly75Ser
ENST00000566347.5:c.493G>A	ENSP00000457783.1:p.Gly165Ser
ENST00000567060.5:c.*80G>A	ENSP00000454818.1:n.*80G>A
NM_017882.2:c.682G>A	NP_060352.1:p.Gly228Ser
NM_017882.3:c.682G>A MANE Select	NP_060352.1:p.Gly228Ser