Canonical Allele Identifier: CA392972046

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2089527
• ClinVar RCV Id: RCV003005596
• dbSNP Id: rs1567094654
• MyVariant Identifiers: chr15:g.68500668T>G (hg19) ; chr15:g.68208330T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208330T>G , CM000677.2:g.68208330T>G	GRCh38
NC_000015.9:g.68500668T>G , CM000677.1:g.68500668T>G	GRCh37
NC_000015.8:g.66287722T>G	NCBI36
NG_008764.2:g.53882A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.746A>C MANE Select	ENSP00000249806.5:p.Lys249Thr
ENST00000562767.2:c.84-10702A>C	ENSP00000456336.1:n.84-10702A>C
ENST00000565471.6:c.287A>C	ENSP00000457384.1:p.Lys96Thr
ENST00000635747.1:c.*649A>C	ENSP00000490627.1:n.*649A>C
ENST00000636212.1:c.*416A>C	ENSP00000489851.1:n.*416A>C
ENST00000636674.1:n.1848A>C
ENST00000636964.1:n.2274A>C
ENST00000637054.1:c.198+10206A>C	ENSP00000490807.1:n.198+10206A>C
ENST00000637329.1:c.715A>C
ENST00000637450.1:c.*400A>C	ENSP00000490204.1:n.*400A>C
ENST00000637494.1:c.458A>C	ENSP00000490057.1:p.Lys153Thr
ENST00000637667.1:c.647A>C	ENSP00000489843.1:p.Lys216Thr
ENST00000637823.1:c.571A>C
ENST00000637888.1:c.198+10206A>C	ENSP00000490546.1:n.198+10206A>C
ENST00000638076.1:c.*349A>C	ENSP00000490373.1:n.*349A>C
ENST00000638144.1:n.389A>C
ENST00000646164.1:c.39-8649A>C
ENST00000249806.9:c.746A>C	ENSP00000249806.5:p.Lys249Thr
ENST00000538696.5:c.842A>C	ENSP00000445770.1:p.Lys281Thr
ENST00000562767.1:c.84-10702A>C	ENSP00000456336.1:n.84-10702A>C
ENST00000564752.1:c.*130A>C	ENSP00000457822.1:n.*130A>C
ENST00000565471.5:c.287A>C	ENSP00000457384.1:p.Lys96Thr
ENST00000566347.5:c.557A>C	ENSP00000457783.1:p.Lys186Thr
ENST00000567060.5:c.*144A>C	ENSP00000454818.1:n.*144A>C
NM_017882.2:c.746A>C	NP_060352.1:p.Lys249Thr
NM_017882.3:c.746A>C MANE Select	NP_060352.1:p.Lys249Thr