Canonical Allele Identifier: CA392971952

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500629A>C (hg19) ; chr15:g.68208291A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208291A>C , CM000677.2:g.68208291A>C	GRCh38
NC_000015.9:g.68500629A>C , CM000677.1:g.68500629A>C	GRCh37
NC_000015.8:g.66287683A>C	NCBI36
NG_008764.2:g.53921T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.785T>G MANE Select	ENSP00000249806.5:p.Leu262Arg
ENST00000562767.2:c.84-10663T>G	ENSP00000456336.1:n.84-10663T>G
ENST00000565471.6:c.326T>G	ENSP00000457384.1:p.Leu109Arg
ENST00000635747.1:c.*688T>G	ENSP00000490627.1:n.*688T>G
ENST00000636212.1:c.*455T>G	ENSP00000489851.1:n.*455T>G
ENST00000636674.1:n.1887T>G
ENST00000636964.1:n.2313T>G
ENST00000637054.1:c.198+10245T>G	ENSP00000490807.1:n.198+10245T>G
ENST00000637329.1:c.754T>G
ENST00000637450.1:c.*439T>G	ENSP00000490204.1:n.*439T>G
ENST00000637494.1:c.497T>G	ENSP00000490057.1:p.Leu166Arg
ENST00000637667.1:c.686T>G	ENSP00000489843.1:p.Leu229Arg
ENST00000637823.1:c.610T>G
ENST00000637888.1:c.198+10245T>G	ENSP00000490546.1:n.198+10245T>G
ENST00000638076.1:c.*388T>G	ENSP00000490373.1:n.*388T>G
ENST00000638144.1:n.428T>G
ENST00000646164.1:c.39-8610T>G
ENST00000249806.9:c.785T>G	ENSP00000249806.5:p.Leu262Arg
ENST00000538696.5:c.881T>G	ENSP00000445770.1:p.Leu294Arg
ENST00000562767.1:c.84-10663T>G	ENSP00000456336.1:n.84-10663T>G
ENST00000565471.5:c.326T>G	ENSP00000457384.1:p.Leu109Arg
ENST00000566347.5:c.596T>G	ENSP00000457783.1:p.Leu199Arg
ENST00000567060.5:c.*183T>G	ENSP00000454818.1:n.*183T>G
NM_017882.2:c.785T>G	NP_060352.1:p.Leu262Arg
NM_017882.3:c.785T>G MANE Select	NP_060352.1:p.Leu262Arg