Canonical Allele Identifier: CA392972105

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500683A>C (hg19) ; chr15:g.68208345A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208345A>C , CM000677.2:g.68208345A>C	GRCh38
NC_000015.9:g.68500683A>C , CM000677.1:g.68500683A>C	GRCh37
NC_000015.8:g.66287737A>C	NCBI36
NG_008764.2:g.53867T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.731T>G MANE Select	ENSP00000249806.5:p.Leu244Arg
ENST00000562767.2:c.84-10717T>G	ENSP00000456336.1:n.84-10717T>G
ENST00000565471.6:c.272T>G	ENSP00000457384.1:p.Leu91Arg
ENST00000635747.1:c.*634T>G	ENSP00000490627.1:n.*634T>G
ENST00000636212.1:c.*401T>G	ENSP00000489851.1:n.*401T>G
ENST00000636674.1:n.1833T>G
ENST00000636964.1:n.2259T>G
ENST00000637054.1:c.198+10191T>G	ENSP00000490807.1:n.198+10191T>G
ENST00000637329.1:c.700T>G
ENST00000637450.1:c.*385T>G	ENSP00000490204.1:n.*385T>G
ENST00000637494.1:c.443T>G	ENSP00000490057.1:p.Leu148Arg
ENST00000637667.1:c.632T>G	ENSP00000489843.1:p.Leu211Arg
ENST00000637823.1:c.556T>G
ENST00000637888.1:c.198+10191T>G	ENSP00000490546.1:n.198+10191T>G
ENST00000638076.1:c.*334T>G	ENSP00000490373.1:n.*334T>G
ENST00000638144.1:n.374T>G
ENST00000646164.1:c.39-8664T>G
ENST00000249806.9:c.731T>G	ENSP00000249806.5:p.Leu244Arg
ENST00000538696.5:c.827T>G	ENSP00000445770.1:p.Leu276Arg
ENST00000562767.1:c.84-10717T>G	ENSP00000456336.1:n.84-10717T>G
ENST00000564752.1:c.*115T>G	ENSP00000457822.1:n.*115T>G
ENST00000565471.5:c.272T>G	ENSP00000457384.1:p.Leu91Arg
ENST00000566347.5:c.542T>G	ENSP00000457783.1:p.Leu181Arg
ENST00000567060.5:c.*129T>G	ENSP00000454818.1:n.*129T>G
NM_017882.2:c.731T>G	NP_060352.1:p.Leu244Arg
NM_017882.3:c.731T>G MANE Select	NP_060352.1:p.Leu244Arg