Canonical Allele Identifier: CA392971654

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500533A>G (hg19) ; chr15:g.68208195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208195A>G , CM000677.2:g.68208195A>G	GRCh38
NC_000015.9:g.68500533A>G , CM000677.1:g.68500533A>G	GRCh37
NC_000015.8:g.66287587A>G	NCBI36
NG_008764.2:g.54017T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.881T>C MANE Select	ENSP00000249806.5:p.Ile294Thr
ENST00000562767.2:c.84-10567T>C	ENSP00000456336.1:n.84-10567T>C
ENST00000565471.6:c.422T>C	ENSP00000457384.1:p.Ile141Thr
ENST00000635747.1:c.*784T>C	ENSP00000490627.1:n.*784T>C
ENST00000636212.1:c.*551T>C	ENSP00000489851.1:n.*551T>C
ENST00000636674.1:n.1983T>C
ENST00000636964.1:n.2409T>C
ENST00000637054.1:c.198+10341T>C	ENSP00000490807.1:n.198+10341T>C
ENST00000637329.1:c.850T>C
ENST00000637450.1:c.*535T>C	ENSP00000490204.1:n.*535T>C
ENST00000637494.1:c.593T>C	ENSP00000490057.1:p.Ile198Thr
ENST00000637823.1:c.706T>C
ENST00000637888.1:c.198+10341T>C	ENSP00000490546.1:n.198+10341T>C
ENST00000638076.1:c.*484T>C	ENSP00000490373.1:n.*484T>C
ENST00000638144.1:n.524T>C
ENST00000646164.1:c.39-8514T>C
ENST00000249806.9:c.881T>C	ENSP00000249806.5:p.Ile294Thr
ENST00000538696.5:c.977T>C	ENSP00000445770.1:p.Ile326Thr
ENST00000562767.1:c.84-10567T>C	ENSP00000456336.1:n.84-10567T>C
ENST00000565471.5:c.422T>C	ENSP00000457384.1:p.Ile141Thr
ENST00000566347.5:c.692T>C	ENSP00000457783.1:p.Ile231Thr
ENST00000567060.5:c.*279T>C	ENSP00000454818.1:n.*279T>C
NM_017882.2:c.881T>C	NP_060352.1:p.Ile294Thr
NM_017882.3:c.881T>C MANE Select	NP_060352.1:p.Ile294Thr