Canonical Allele Identifier: CA392971819

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500579A>G (hg19) ; chr15:g.68208241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208241A>G , CM000677.2:g.68208241A>G	GRCh38
NC_000015.9:g.68500579A>G , CM000677.1:g.68500579A>G	GRCh37
NC_000015.8:g.66287633A>G	NCBI36
NG_008764.2:g.53971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.835T>C MANE Select	ENSP00000249806.5:p.Trp279Arg
ENST00000562767.2:c.84-10613T>C	ENSP00000456336.1:n.84-10613T>C
ENST00000565471.6:c.376T>C	ENSP00000457384.1:p.Trp126Arg
ENST00000635747.1:c.*738T>C	ENSP00000490627.1:n.*738T>C
ENST00000636212.1:c.*505T>C	ENSP00000489851.1:n.*505T>C
ENST00000636674.1:n.1937T>C
ENST00000636964.1:n.2363T>C
ENST00000637054.1:c.198+10295T>C	ENSP00000490807.1:n.198+10295T>C
ENST00000637329.1:c.804T>C
ENST00000637450.1:c.*489T>C	ENSP00000490204.1:n.*489T>C
ENST00000637494.1:c.547T>C	ENSP00000490057.1:p.Trp183Arg
ENST00000637667.1:c.736T>C	ENSP00000489843.1:p.Trp246Arg
ENST00000637823.1:c.660T>C
ENST00000637888.1:c.198+10295T>C	ENSP00000490546.1:n.198+10295T>C
ENST00000638076.1:c.*438T>C	ENSP00000490373.1:n.*438T>C
ENST00000638144.1:n.478T>C
ENST00000646164.1:c.39-8560T>C
ENST00000249806.9:c.835T>C	ENSP00000249806.5:p.Trp279Arg
ENST00000538696.5:c.931T>C	ENSP00000445770.1:p.Trp311Arg
ENST00000562767.1:c.84-10613T>C	ENSP00000456336.1:n.84-10613T>C
ENST00000565471.5:c.376T>C	ENSP00000457384.1:p.Trp126Arg
ENST00000566347.5:c.646T>C	ENSP00000457783.1:p.Trp216Arg
ENST00000567060.5:c.*233T>C	ENSP00000454818.1:n.*233T>C
NM_017882.2:c.835T>C	NP_060352.1:p.Trp279Arg
NM_017882.3:c.835T>C MANE Select	NP_060352.1:p.Trp279Arg