Canonical Allele Identifier: CA392973537

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1503026
• ClinVar RCV Id: RCV002011142
• dbSNP Id: rs2141139324
• MyVariant Identifiers: chr15:g.68504122A>G (hg19) ; chr15:g.68211784A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211784A>G , CM000677.2:g.68211784A>G	GRCh38
NC_000015.9:g.68504122A>G , CM000677.1:g.68504122A>G	GRCh37
NC_000015.8:g.66291176A>G	NCBI36
NG_008764.2:g.50428T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.377T>C MANE Select	ENSP00000249806.5:p.Ile126Thr
ENST00000562767.2:c.84-14156T>C	ENSP00000456336.1:n.84-14156T>C
ENST00000563917.2:n.219T>C
ENST00000565471.6:c.84-2025T>C	ENSP00000457384.1:n.84-2025T>C
ENST00000635747.1:c.*280T>C	ENSP00000490627.1:n.*280T>C
ENST00000636212.1:c.298-43T>C	ENSP00000489851.1:n.298-43T>C
ENST00000636314.1:c.183-466T>C	ENSP00000490295.1:n.183-466T>C
ENST00000636674.1:n.1360T>C
ENST00000636964.1:n.1549T>C
ENST00000637054.1:c.198+6752T>C	ENSP00000490807.1:n.198+6752T>C
ENST00000637223.1:c.*201-466T>C	ENSP00000490010.1:n.*201-466T>C
ENST00000637329.1:c.346T>C
ENST00000637450.1:c.*31T>C	ENSP00000490204.1:n.*31T>C
ENST00000637494.1:c.199-466T>C	ENSP00000490057.1:n.199-466T>C
ENST00000637667.1:c.278T>C	ENSP00000489843.1:p.Ile93Thr
ENST00000637823.1:c.224-141T>C
ENST00000637888.1:c.198+6752T>C	ENSP00000490546.1:n.198+6752T>C
ENST00000638076.1:c.377T>C	ENSP00000490373.1:p.Ile126Thr
ENST00000638144.1:n.130-466T>C
ENST00000646164.1:c.38+6752T>C
ENST00000249806.9:c.377T>C	ENSP00000249806.5:p.Ile126Thr
ENST00000538696.5:c.473T>C	ENSP00000445770.1:p.Ile158Thr
ENST00000562767.1:c.84-14156T>C	ENSP00000456336.1:n.84-14156T>C
ENST00000563917.1:n.158T>C
ENST00000564752.1:c.377T>C	ENSP00000457822.1:p.Ile126Thr
ENST00000565471.5:c.84-2025T>C	ENSP00000457384.1:n.84-2025T>C
ENST00000566347.5:c.298-466T>C	ENSP00000457783.1:n.298-466T>C
ENST00000567060.5:c.298-2064T>C	ENSP00000454818.1:n.298-2064T>C
NM_017882.2:c.377T>C	NP_060352.1:p.Ile126Thr
XR_931861.1:n.480T>C
NM_017882.3:c.377T>C MANE Select	NP_060352.1:p.Ile126Thr