Canonical Allele Identifier: CA392972875

Gene: CLN6

Linked Data

• dbSNP Id: rs2093198944
• gnomAD v4: 15-68209688-A-C
• MyVariant Identifiers: chr15:g.68502026A>C (hg19) ; chr15:g.68209688A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.614T>G MANE Select	ENSP00000249806.5:p.Leu205Trp
ENST00000562767.2:c.84-12060T>G	ENSP00000456336.1:n.84-12060T>G
ENST00000563917.2:n.456T>G
ENST00000565471.6:c.155T>G	ENSP00000457384.1:p.Leu52Trp
ENST00000635747.1:c.*517T>G	ENSP00000490627.1:n.*517T>G
ENST00000636212.1:c.*284T>G	ENSP00000489851.1:n.*284T>G
ENST00000636314.1:c.310T>G	ENSP00000490295.1:p.Ter104Gly
ENST00000636674.1:n.1716T>G
ENST00000636964.1:n.2142T>G
ENST00000637054.1:c.198+8848T>G	ENSP00000490807.1:n.198+8848T>G
ENST00000637329.1:c.583T>G
ENST00000637450.1:c.*268T>G	ENSP00000490204.1:n.*268T>G
ENST00000637494.1:c.326T>G	ENSP00000490057.1:p.Leu109Trp
ENST00000637667.1:c.515T>G	ENSP00000489843.1:p.Leu172Trp
ENST00000637823.1:c.439T>G
ENST00000637888.1:c.198+8848T>G	ENSP00000490546.1:n.198+8848T>G
ENST00000638076.1:c.*217T>G	ENSP00000490373.1:n.*217T>G
ENST00000638144.1:n.257T>G
ENST00000646164.1:c.38+8848T>G
ENST00000249806.9:c.614T>G	ENSP00000249806.5:p.Leu205Trp
ENST00000538696.5:c.710T>G	ENSP00000445770.1:p.Leu237Trp
ENST00000562767.1:c.84-12060T>G	ENSP00000456336.1:n.84-12060T>G
ENST00000563917.1:n.514T>G
ENST00000564752.1:c.640T>G	ENSP00000457822.1:p.Ter214Gly
ENST00000565471.5:c.155T>G	ENSP00000457384.1:p.Leu52Trp
ENST00000566347.5:c.425T>G	ENSP00000457783.1:p.Leu142Trp
ENST00000567060.5:c.*12T>G	ENSP00000454818.1:n.*12T>G
NM_017882.2:c.614T>G	NP_060352.1:p.Leu205Trp
XR_931861.1:n.836T>G
NM_017882.3:c.614T>G MANE Select	NP_060352.1:p.Leu205Trp