Canonical Allele Identifier: CA392972385

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500748C>G (hg19) ; chr15:g.68208410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208410C>G , CM000677.2:g.68208410C>G	GRCh38
NC_000015.9:g.68500748C>G , CM000677.1:g.68500748C>G	GRCh37
NC_000015.8:g.66287802C>G	NCBI36
NG_008764.2:g.53802G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.666G>C MANE Select	ENSP00000249806.5:p.Trp222Cys
ENST00000562767.2:c.84-10782G>C	ENSP00000456336.1:n.84-10782G>C
ENST00000563917.2:n.508G>C
ENST00000565471.6:c.207G>C	ENSP00000457384.1:p.Trp69Cys
ENST00000635747.1:c.*569G>C	ENSP00000490627.1:n.*569G>C
ENST00000636212.1:c.*336G>C	ENSP00000489851.1:n.*336G>C
ENST00000636674.1:n.1768G>C
ENST00000636964.1:n.2194G>C
ENST00000637054.1:c.198+10126G>C	ENSP00000490807.1:n.198+10126G>C
ENST00000637329.1:c.635G>C
ENST00000637450.1:c.*320G>C	ENSP00000490204.1:n.*320G>C
ENST00000637494.1:c.378G>C	ENSP00000490057.1:p.Trp126Cys
ENST00000637667.1:c.567G>C	ENSP00000489843.1:p.Trp189Cys
ENST00000637823.1:c.491G>C
ENST00000637888.1:c.198+10126G>C	ENSP00000490546.1:n.198+10126G>C
ENST00000638076.1:c.*269G>C	ENSP00000490373.1:n.*269G>C
ENST00000638144.1:n.309G>C
ENST00000646164.1:c.39-8729G>C
ENST00000249806.9:c.666G>C	ENSP00000249806.5:p.Trp222Cys
ENST00000538696.5:c.762G>C	ENSP00000445770.1:p.Trp254Cys
ENST00000562767.1:c.84-10782G>C	ENSP00000456336.1:n.84-10782G>C
ENST00000564752.1:c.*50G>C	ENSP00000457822.1:n.*50G>C
ENST00000565471.5:c.207G>C	ENSP00000457384.1:p.Trp69Cys
ENST00000566347.5:c.477G>C	ENSP00000457783.1:p.Trp159Cys
ENST00000567060.5:c.*64G>C	ENSP00000454818.1:n.*64G>C
NM_017882.2:c.666G>C	NP_060352.1:p.Trp222Cys
XR_931861.1:n.888G>C
NM_017882.3:c.666G>C MANE Select	NP_060352.1:p.Trp222Cys