Canonical Allele Identifier: CA392971796

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500573A>G (hg19) ; chr15:g.68208235A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208235A>G , CM000677.2:g.68208235A>G	GRCh38
NC_000015.9:g.68500573A>G , CM000677.1:g.68500573A>G	GRCh37
NC_000015.8:g.66287627A>G	NCBI36
NG_008764.2:g.53977T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.841T>C MANE Select	ENSP00000249806.5:p.Trp281Arg
ENST00000562767.2:c.84-10607T>C	ENSP00000456336.1:n.84-10607T>C
ENST00000565471.6:c.382T>C	ENSP00000457384.1:p.Trp128Arg
ENST00000635747.1:c.*744T>C	ENSP00000490627.1:n.*744T>C
ENST00000636212.1:c.*511T>C	ENSP00000489851.1:n.*511T>C
ENST00000636674.1:n.1943T>C
ENST00000636964.1:n.2369T>C
ENST00000637054.1:c.198+10301T>C	ENSP00000490807.1:n.198+10301T>C
ENST00000637329.1:c.810T>C
ENST00000637450.1:c.*495T>C	ENSP00000490204.1:n.*495T>C
ENST00000637494.1:c.553T>C	ENSP00000490057.1:p.Trp185Arg
ENST00000637667.1:c.742T>C	ENSP00000489843.1:p.Trp248Arg
ENST00000637823.1:c.666T>C
ENST00000637888.1:c.198+10301T>C	ENSP00000490546.1:n.198+10301T>C
ENST00000638076.1:c.*444T>C	ENSP00000490373.1:n.*444T>C
ENST00000638144.1:n.484T>C
ENST00000646164.1:c.39-8554T>C
ENST00000249806.9:c.841T>C	ENSP00000249806.5:p.Trp281Arg
ENST00000538696.5:c.937T>C	ENSP00000445770.1:p.Trp313Arg
ENST00000562767.1:c.84-10607T>C	ENSP00000456336.1:n.84-10607T>C
ENST00000565471.5:c.382T>C	ENSP00000457384.1:p.Trp128Arg
ENST00000566347.5:c.652T>C	ENSP00000457783.1:p.Trp218Arg
ENST00000567060.5:c.*239T>C	ENSP00000454818.1:n.*239T>C
NM_017882.2:c.841T>C	NP_060352.1:p.Trp281Arg
NM_017882.3:c.841T>C MANE Select	NP_060352.1:p.Trp281Arg