Canonical Allele Identifier: CA392972950

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502054A>C (hg19) ; chr15:g.68209716A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209716A>C , CM000677.2:g.68209716A>C	GRCh38
NC_000015.9:g.68502054A>C , CM000677.1:g.68502054A>C	GRCh37
NC_000015.8:g.66289108A>C	NCBI36
NG_008764.2:g.52496T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.586T>G MANE Select	ENSP00000249806.5:p.Cys196Gly
ENST00000562767.2:c.84-12088T>G	ENSP00000456336.1:n.84-12088T>G
ENST00000563917.2:n.428T>G
ENST00000565471.6:c.127T>G	ENSP00000457384.1:p.Cys43Gly
ENST00000635747.1:c.*489T>G	ENSP00000490627.1:n.*489T>G
ENST00000636212.1:c.*256T>G	ENSP00000489851.1:n.*256T>G
ENST00000636314.1:c.282T>G	ENSP00000490295.1:p.Ala94=
ENST00000636674.1:n.1688T>G
ENST00000636964.1:n.2114T>G
ENST00000637054.1:c.198+8820T>G	ENSP00000490807.1:n.198+8820T>G
ENST00000637223.1:c.*300T>G	ENSP00000490010.1:n.*300T>G
ENST00000637329.1:c.555T>G
ENST00000637450.1:c.*240T>G	ENSP00000490204.1:n.*240T>G
ENST00000637494.1:c.298T>G	ENSP00000490057.1:p.Cys100Gly
ENST00000637667.1:c.487T>G	ENSP00000489843.1:p.Cys163Gly
ENST00000637823.1:c.411T>G
ENST00000637888.1:c.198+8820T>G	ENSP00000490546.1:n.198+8820T>G
ENST00000638076.1:c.*189T>G	ENSP00000490373.1:n.*189T>G
ENST00000638144.1:n.229T>G
ENST00000646164.1:c.38+8820T>G
ENST00000249806.9:c.586T>G	ENSP00000249806.5:p.Cys196Gly
ENST00000538696.5:c.682T>G	ENSP00000445770.1:p.Cys228Gly
ENST00000562767.1:c.84-12088T>G	ENSP00000456336.1:n.84-12088T>G
ENST00000563917.1:n.486T>G
ENST00000564752.1:c.612T>G	ENSP00000457822.1:p.Ala204=
ENST00000565471.5:c.127T>G	ENSP00000457384.1:p.Cys43Gly
ENST00000566347.5:c.397T>G	ENSP00000457783.1:p.Cys133Gly
ENST00000567060.5:c.302T>G	ENSP00000454818.1:p.Leu101Arg
NM_017882.2:c.586T>G	NP_060352.1:p.Cys196Gly
XR_931861.1:n.808T>G
NM_017882.3:c.586T>G MANE Select	NP_060352.1:p.Cys196Gly