Canonical Allele Identifier: CA392972877

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502026A>G (hg19) ; chr15:g.68209688A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209688A>G , CM000677.2:g.68209688A>G	GRCh38
NC_000015.9:g.68502026A>G , CM000677.1:g.68502026A>G	GRCh37
NC_000015.8:g.66289080A>G	NCBI36
NG_008764.2:g.52524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.614T>C MANE Select	ENSP00000249806.5:p.Leu205Ser
ENST00000562767.2:c.84-12060T>C	ENSP00000456336.1:n.84-12060T>C
ENST00000563917.2:n.456T>C
ENST00000565471.6:c.155T>C	ENSP00000457384.1:p.Leu52Ser
ENST00000635747.1:c.*517T>C	ENSP00000490627.1:n.*517T>C
ENST00000636212.1:c.*284T>C	ENSP00000489851.1:n.*284T>C
ENST00000636314.1:c.310T>C	ENSP00000490295.1:p.Ter104Arg
ENST00000636674.1:n.1716T>C
ENST00000636964.1:n.2142T>C
ENST00000637054.1:c.198+8848T>C	ENSP00000490807.1:n.198+8848T>C
ENST00000637329.1:c.583T>C
ENST00000637450.1:c.*268T>C	ENSP00000490204.1:n.*268T>C
ENST00000637494.1:c.326T>C	ENSP00000490057.1:p.Leu109Ser
ENST00000637667.1:c.515T>C	ENSP00000489843.1:p.Leu172Ser
ENST00000637823.1:c.439T>C
ENST00000637888.1:c.198+8848T>C	ENSP00000490546.1:n.198+8848T>C
ENST00000638076.1:c.*217T>C	ENSP00000490373.1:n.*217T>C
ENST00000638144.1:n.257T>C
ENST00000646164.1:c.38+8848T>C
ENST00000249806.9:c.614T>C	ENSP00000249806.5:p.Leu205Ser
ENST00000538696.5:c.710T>C	ENSP00000445770.1:p.Leu237Ser
ENST00000562767.1:c.84-12060T>C	ENSP00000456336.1:n.84-12060T>C
ENST00000563917.1:n.514T>C
ENST00000564752.1:c.640T>C	ENSP00000457822.1:p.Ter214Arg
ENST00000565471.5:c.155T>C	ENSP00000457384.1:p.Leu52Ser
ENST00000566347.5:c.425T>C	ENSP00000457783.1:p.Leu142Ser
ENST00000567060.5:c.*12T>C	ENSP00000454818.1:n.*12T>C
NM_017882.2:c.614T>C	NP_060352.1:p.Leu205Ser
XR_931861.1:n.836T>C
NM_017882.3:c.614T>C MANE Select	NP_060352.1:p.Leu205Ser