Canonical Allele Identifier: CA392975618

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1676843
• ClinVar RCV Id: RCV002291316
• MyVariant Identifiers: chr15:g.68510914A>C (hg19) ; chr15:g.68218576A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218576A>C , CM000677.2:g.68218576A>C	GRCh38
NC_000015.9:g.68510914A>C , CM000677.1:g.68510914A>C	GRCh37
NC_000015.8:g.66297968A>C	NCBI36
NG_008764.2:g.43636T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.158T>G MANE Select	ENSP00000249806.5:p.Leu53Arg
ENST00000562767.2:c.83+10926T>G	ENSP00000456336.1:n.83+10926T>G
ENST00000563917.2:n.41-4188T>G
ENST00000565471.6:c.84-8817T>G	ENSP00000457384.1:n.84-8817T>G
ENST00000569336.2:n.67T>G
ENST00000635747.1:c.*61T>G	ENSP00000490627.1:n.*61T>G
ENST00000636020.1:n.290T>G
ENST00000636212.1:c.158T>G	ENSP00000489851.1:p.Leu53Arg
ENST00000636314.1:c.84-4188T>G	ENSP00000490295.1:n.84-4188T>G
ENST00000636876.1:c.*178T>G	ENSP00000489950.1:n.*178T>G
ENST00000637054.1:c.158T>G	ENSP00000490807.1:p.Leu53Arg
ENST00000637223.1:c.*61T>G	ENSP00000490010.1:n.*61T>G
ENST00000637329.1:c.69T>G
ENST00000637450.1:c.84-4188T>G	ENSP00000490204.1:n.84-4188T>G
ENST00000637494.1:c.158T>G	ENSP00000490057.1:p.Leu53Arg
ENST00000637667.1:c.158T>G	ENSP00000489843.1:p.Leu53Arg
ENST00000637823.1:c.84T>G
ENST00000637888.1:c.158T>G	ENSP00000490546.1:p.Leu53Arg
ENST00000638076.1:c.158T>G	ENSP00000490373.1:p.Leu53Arg
ENST00000638144.1:n.31-4188T>G
ENST00000249806.9:c.158T>G	ENSP00000249806.5:p.Leu53Arg
ENST00000538696.5:c.254T>G	ENSP00000445770.1:p.Leu85Arg
ENST00000562767.1:c.83+10926T>G	ENSP00000456336.1:n.83+10926T>G
ENST00000564752.1:c.158T>G	ENSP00000457822.1:p.Leu53Arg
ENST00000564846.1:n.590T>G
ENST00000565471.5:c.84-8817T>G	ENSP00000457384.1:n.84-8817T>G
ENST00000566347.5:c.158T>G	ENSP00000457783.1:p.Leu53Arg
ENST00000567060.5:c.158T>G	ENSP00000454818.1:p.Leu53Arg
ENST00000569336.1:n.244T>G
NM_017882.2:c.158T>G	NP_060352.1:p.Leu53Arg
XR_931861.1:n.261T>G
NM_017882.3:c.158T>G MANE Select	NP_060352.1:p.Leu53Arg