Canonical Allele Identifier: CA313971

Gene: CLN6

Linked Data

• ClinVar Variation Id: 205171
• ClinVar RCV Id: RCV000187100 ; RCV001379342
• dbSNP Id: rs796052356
• gnomAD v2: 15-68501974-C-T
• gnomAD v4: 15-68209636-C-T
• MyVariant Identifiers: chr15:g.68501974C>T (hg19) ; chr15:g.68209636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209636C>T , CM000677.2:g.68209636C>T	GRCh38
NC_000015.9:g.68501974C>T , CM000677.1:g.68501974C>T	GRCh37
NC_000015.8:g.66289028C>T	NCBI36
NG_008764.2:g.52576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665+1G>A MANE Select	ENSP00000249806.5:n.665+1G>A
ENST00000562767.2:c.84-12008G>A	ENSP00000456336.1:n.84-12008G>A
ENST00000563917.2:n.507+1G>A
ENST00000565471.6:c.206+1G>A	ENSP00000457384.1:n.206+1G>A
ENST00000635747.1:c.*568+1G>A	ENSP00000490627.1:n.*568+1G>A
ENST00000636212.1:c.*335+1G>A	ENSP00000489851.1:n.*335+1G>A
ENST00000636674.1:n.1767+1G>A
ENST00000636964.1:n.2193+1G>A
ENST00000637054.1:c.198+8900G>A	ENSP00000490807.1:n.198+8900G>A
ENST00000637329.1:c.634+1G>A
ENST00000637450.1:c.*319+1G>A	ENSP00000490204.1:n.*319+1G>A
ENST00000637494.1:c.377+1G>A	ENSP00000490057.1:n.377+1G>A
ENST00000637667.1:c.566+1G>A	ENSP00000489843.1:n.566+1G>A
ENST00000637823.1:c.490+1G>A
ENST00000637888.1:c.198+8900G>A	ENSP00000490546.1:n.198+8900G>A
ENST00000638076.1:c.*268+1G>A	ENSP00000490373.1:n.*268+1G>A
ENST00000638144.1:n.308+1G>A
ENST00000646164.1:c.38+8900G>A
ENST00000249806.9:c.665+1G>A	ENSP00000249806.5:n.665+1G>A
ENST00000538696.5:c.761+1G>A	ENSP00000445770.1:n.761+1G>A
ENST00000562767.1:c.84-12008G>A	ENSP00000456336.1:n.84-12008G>A
ENST00000563917.1:n.566G>A
ENST00000564752.1:c.*49+1G>A	ENSP00000457822.1:n.*49+1G>A
ENST00000565471.5:c.206+1G>A	ENSP00000457384.1:n.206+1G>A
ENST00000566347.5:c.476+1G>A	ENSP00000457783.1:n.476+1G>A
ENST00000567060.5:c.*63+1G>A	ENSP00000454818.1:n.*63+1G>A
NM_017882.2:c.665+1G>A	NP_060352.1:n.665+1G>A
XR_931861.1:n.887+1G>A
NM_017882.3:c.665+1G>A MANE Select	NP_060352.1:n.665+1G>A