Canonical Allele Identifier: CA392973494

Gene: CLN6

Linked Data

• dbSNP Id: rs1595818296
• gnomAD v4: 15-68211764-C-G
• MyVariant Identifiers: chr15:g.68504102C>G (hg19) ; chr15:g.68211764C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211764C>G , CM000677.2:g.68211764C>G	GRCh38
NC_000015.9:g.68504102C>G , CM000677.1:g.68504102C>G	GRCh37
NC_000015.8:g.66291156C>G	NCBI36
NG_008764.2:g.50448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.397G>C MANE Select	ENSP00000249806.5:p.Val133Leu
ENST00000562767.2:c.84-14136G>C	ENSP00000456336.1:n.84-14136G>C
ENST00000563917.2:n.239G>C
ENST00000565471.6:c.84-2005G>C	ENSP00000457384.1:n.84-2005G>C
ENST00000635747.1:c.*300G>C	ENSP00000490627.1:n.*300G>C
ENST00000636212.1:c.298-23G>C	ENSP00000489851.1:n.298-23G>C
ENST00000636314.1:c.183-446G>C	ENSP00000490295.1:n.183-446G>C
ENST00000636674.1:n.1380G>C
ENST00000636964.1:n.1569G>C
ENST00000637054.1:c.198+6772G>C	ENSP00000490807.1:n.198+6772G>C
ENST00000637223.1:c.*201-446G>C	ENSP00000490010.1:n.*201-446G>C
ENST00000637329.1:c.366G>C
ENST00000637450.1:c.*51G>C	ENSP00000490204.1:n.*51G>C
ENST00000637494.1:c.199-446G>C	ENSP00000490057.1:n.199-446G>C
ENST00000637667.1:c.298G>C	ENSP00000489843.1:p.Val100Leu
ENST00000637823.1:c.224-121G>C
ENST00000637888.1:c.198+6772G>C	ENSP00000490546.1:n.198+6772G>C
ENST00000638076.1:c.397G>C	ENSP00000490373.1:p.Val133Leu
ENST00000638144.1:n.130-446G>C
ENST00000646164.1:c.38+6772G>C
ENST00000249806.9:c.397G>C	ENSP00000249806.5:p.Val133Leu
ENST00000538696.5:c.493G>C	ENSP00000445770.1:p.Val165Leu
ENST00000562767.1:c.84-14136G>C	ENSP00000456336.1:n.84-14136G>C
ENST00000563917.1:n.178G>C
ENST00000564752.1:c.397G>C	ENSP00000457822.1:p.Val133Leu
ENST00000565471.5:c.84-2005G>C	ENSP00000457384.1:n.84-2005G>C
ENST00000566347.5:c.298-446G>C	ENSP00000457783.1:n.298-446G>C
ENST00000567060.5:c.298-2044G>C	ENSP00000454818.1:n.298-2044G>C
NM_017882.2:c.397G>C	NP_060352.1:p.Val133Leu
XR_931861.1:n.500G>C
NM_017882.3:c.397G>C MANE Select	NP_060352.1:p.Val133Leu