Canonical Allele Identifier: CA7630557

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2015185
• ClinVar RCV Id: RCV002839332
• dbSNP Id: rs767578507
• ExAC: 15:68503585 T / A
• gnomAD v2: 15-68503585-T-A
• gnomAD v4: 15-68211247-T-A
• MyVariant Identifiers: chr15:g.68503585T>A (hg19) ; chr15:g.68211247T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211247T>A , CM000677.2:g.68211247T>A	GRCh38
NC_000015.9:g.68503585T>A , CM000677.1:g.68503585T>A	GRCh37
NC_000015.8:g.66290639T>A	NCBI36
NG_008764.2:g.50965A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.542+16A>T MANE Select	ENSP00000249806.5:n.542+16A>T
ENST00000562767.2:c.84-13619A>T	ENSP00000456336.1:n.84-13619A>T
ENST00000563917.2:n.384+16A>T
ENST00000565471.6:c.84-1488A>T	ENSP00000457384.1:n.84-1488A>T
ENST00000635747.1:c.*445+16A>T	ENSP00000490627.1:n.*445+16A>T
ENST00000636212.1:c.*212+16A>T	ENSP00000489851.1:n.*212+16A>T
ENST00000636314.1:c.238+16A>T	ENSP00000490295.1:n.238+16A>T
ENST00000636674.1:n.1644+16A>T
ENST00000636964.1:n.2070+16A>T
ENST00000637054.1:c.198+7289A>T	ENSP00000490807.1:n.198+7289A>T
ENST00000637223.1:c.*256+16A>T	ENSP00000490010.1:n.*256+16A>T
ENST00000637329.1:c.511+16A>T
ENST00000637450.1:c.*196+16A>T	ENSP00000490204.1:n.*196+16A>T
ENST00000637494.1:c.254+16A>T	ENSP00000490057.1:n.254+16A>T
ENST00000637667.1:c.443+16A>T	ENSP00000489843.1:n.443+16A>T
ENST00000637823.1:c.367+16A>T
ENST00000637888.1:c.198+7289A>T	ENSP00000490546.1:n.198+7289A>T
ENST00000638076.1:c.*145+16A>T	ENSP00000490373.1:n.*145+16A>T
ENST00000638144.1:n.185+16A>T
ENST00000646164.1:c.38+7289A>T
ENST00000249806.9:c.542+16A>T	ENSP00000249806.5:n.542+16A>T
ENST00000538696.5:c.638+16A>T	ENSP00000445770.1:n.638+16A>T
ENST00000562767.1:c.84-13619A>T	ENSP00000456336.1:n.84-13619A>T
ENST00000563917.1:n.442+16A>T
ENST00000564752.1:c.568+16A>T	ENSP00000457822.1:n.568+16A>T
ENST00000565471.5:c.84-1488A>T	ENSP00000457384.1:n.84-1488A>T
ENST00000566347.5:c.353+16A>T	ENSP00000457783.1:n.353+16A>T
ENST00000567060.5:c.298-1527A>T	ENSP00000454818.1:n.298-1527A>T
NM_017882.2:c.542+16A>T	NP_060352.1:n.542+16A>T
XR_931861.1:n.764+16A>T
NM_017882.3:c.542+16A>T MANE Select	NP_060352.1:n.542+16A>T