Canonical Allele Identifier: CA392972027

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500663T>C (hg19) ; chr15:g.68208325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208325T>C , CM000677.2:g.68208325T>C	GRCh38
NC_000015.9:g.68500663T>C , CM000677.1:g.68500663T>C	GRCh37
NC_000015.8:g.66287717T>C	NCBI36
NG_008764.2:g.53887A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.751A>G MANE Select	ENSP00000249806.5:p.Lys251Glu
ENST00000562767.2:c.84-10697A>G	ENSP00000456336.1:n.84-10697A>G
ENST00000565471.6:c.292A>G	ENSP00000457384.1:p.Lys98Glu
ENST00000635747.1:c.*654A>G	ENSP00000490627.1:n.*654A>G
ENST00000636212.1:c.*421A>G	ENSP00000489851.1:n.*421A>G
ENST00000636674.1:n.1853A>G
ENST00000636964.1:n.2279A>G
ENST00000637054.1:c.198+10211A>G	ENSP00000490807.1:n.198+10211A>G
ENST00000637329.1:c.720A>G
ENST00000637450.1:c.*405A>G	ENSP00000490204.1:n.*405A>G
ENST00000637494.1:c.463A>G	ENSP00000490057.1:p.Lys155Glu
ENST00000637667.1:c.652A>G	ENSP00000489843.1:p.Lys218Glu
ENST00000637823.1:c.576A>G
ENST00000637888.1:c.198+10211A>G	ENSP00000490546.1:n.198+10211A>G
ENST00000638076.1:c.*354A>G	ENSP00000490373.1:n.*354A>G
ENST00000638144.1:n.394A>G
ENST00000646164.1:c.39-8644A>G
ENST00000249806.9:c.751A>G	ENSP00000249806.5:p.Lys251Glu
ENST00000538696.5:c.847A>G	ENSP00000445770.1:p.Lys283Glu
ENST00000562767.1:c.84-10697A>G	ENSP00000456336.1:n.84-10697A>G
ENST00000565471.5:c.292A>G	ENSP00000457384.1:p.Lys98Glu
ENST00000566347.5:c.562A>G	ENSP00000457783.1:p.Lys188Glu
ENST00000567060.5:c.*149A>G	ENSP00000454818.1:n.*149A>G
NM_017882.2:c.751A>G	NP_060352.1:p.Lys251Glu
NM_017882.3:c.751A>G MANE Select	NP_060352.1:p.Lys251Glu