Canonical Allele Identifier: CA392972262

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500719A>C (hg19) ; chr15:g.68208381A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208381A>C , CM000677.2:g.68208381A>C	GRCh38
NC_000015.9:g.68500719A>C , CM000677.1:g.68500719A>C	GRCh37
NC_000015.8:g.66287773A>C	NCBI36
NG_008764.2:g.53831T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.695T>G MANE Select	ENSP00000249806.5:p.Ile232Ser
ENST00000562767.2:c.84-10753T>G	ENSP00000456336.1:n.84-10753T>G
ENST00000563917.2:n.537T>G
ENST00000565471.6:c.236T>G	ENSP00000457384.1:p.Ile79Ser
ENST00000635747.1:c.*598T>G	ENSP00000490627.1:n.*598T>G
ENST00000636212.1:c.*365T>G	ENSP00000489851.1:n.*365T>G
ENST00000636674.1:n.1797T>G
ENST00000636964.1:n.2223T>G
ENST00000637054.1:c.198+10155T>G	ENSP00000490807.1:n.198+10155T>G
ENST00000637329.1:c.664T>G
ENST00000637450.1:c.*349T>G	ENSP00000490204.1:n.*349T>G
ENST00000637494.1:c.407T>G	ENSP00000490057.1:p.Ile136Ser
ENST00000637667.1:c.596T>G	ENSP00000489843.1:p.Ile199Ser
ENST00000637823.1:c.520T>G
ENST00000637888.1:c.198+10155T>G	ENSP00000490546.1:n.198+10155T>G
ENST00000638076.1:c.*298T>G	ENSP00000490373.1:n.*298T>G
ENST00000638144.1:n.338T>G
ENST00000646164.1:c.39-8700T>G
ENST00000249806.9:c.695T>G	ENSP00000249806.5:p.Ile232Ser
ENST00000538696.5:c.791T>G	ENSP00000445770.1:p.Ile264Ser
ENST00000562767.1:c.84-10753T>G	ENSP00000456336.1:n.84-10753T>G
ENST00000564752.1:c.*79T>G	ENSP00000457822.1:n.*79T>G
ENST00000565471.5:c.236T>G	ENSP00000457384.1:p.Ile79Ser
ENST00000566347.5:c.506T>G	ENSP00000457783.1:p.Ile169Ser
ENST00000567060.5:c.*93T>G	ENSP00000454818.1:n.*93T>G
NM_017882.2:c.695T>G	NP_060352.1:p.Ile232Ser
NM_017882.3:c.695T>G MANE Select	NP_060352.1:p.Ile232Ser