Canonical Allele Identifier: CA392972911

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1448979
• ClinVar RCV Id: RCV002012292
• dbSNP Id: rs2141137255
• MyVariant Identifiers: chr15:g.68502038T>G (hg19) ; chr15:g.68209700T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209700T>G , CM000677.2:g.68209700T>G	GRCh38
NC_000015.9:g.68502038T>G , CM000677.1:g.68502038T>G	GRCh37
NC_000015.8:g.66289092T>G	NCBI36
NG_008764.2:g.52512A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.602A>C MANE Select	ENSP00000249806.5:p.Lys201Thr
ENST00000562767.2:c.84-12072A>C	ENSP00000456336.1:n.84-12072A>C
ENST00000563917.2:n.444A>C
ENST00000565471.6:c.143A>C	ENSP00000457384.1:p.Lys48Thr
ENST00000635747.1:c.*505A>C	ENSP00000490627.1:n.*505A>C
ENST00000636212.1:c.*272A>C	ENSP00000489851.1:n.*272A>C
ENST00000636314.1:c.298A>C	ENSP00000490295.1:p.Lys100Gln
ENST00000636674.1:n.1704A>C
ENST00000636964.1:n.2130A>C
ENST00000637054.1:c.198+8836A>C	ENSP00000490807.1:n.198+8836A>C
ENST00000637329.1:c.571A>C
ENST00000637450.1:c.*256A>C	ENSP00000490204.1:n.*256A>C
ENST00000637494.1:c.314A>C	ENSP00000490057.1:p.Lys105Thr
ENST00000637667.1:c.503A>C	ENSP00000489843.1:p.Lys168Thr
ENST00000637823.1:c.427A>C
ENST00000637888.1:c.198+8836A>C	ENSP00000490546.1:n.198+8836A>C
ENST00000638076.1:c.*205A>C	ENSP00000490373.1:n.*205A>C
ENST00000638144.1:n.245A>C
ENST00000646164.1:c.38+8836A>C
ENST00000249806.9:c.602A>C	ENSP00000249806.5:p.Lys201Thr
ENST00000538696.5:c.698A>C	ENSP00000445770.1:p.Lys233Thr
ENST00000562767.1:c.84-12072A>C	ENSP00000456336.1:n.84-12072A>C
ENST00000563917.1:n.502A>C
ENST00000564752.1:c.628A>C	ENSP00000457822.1:p.Lys210Gln
ENST00000565471.5:c.143A>C	ENSP00000457384.1:p.Lys48Thr
ENST00000566347.5:c.413A>C	ENSP00000457783.1:p.Lys138Thr
ENST00000567060.5:c.318A>C	ENSP00000454818.1:p.Ter106Tyr
NM_017882.2:c.602A>C	NP_060352.1:p.Lys201Thr
XR_931861.1:n.824A>C
NM_017882.3:c.602A>C MANE Select	NP_060352.1:p.Lys201Thr