Canonical Allele Identifier: CA392974482

Gene: CLN6

Linked Data

• ClinVar Variation Id: 984030
• ClinVar RCV Id: RCV001264035
• dbSNP Id: rs2093214695
• MyVariant Identifiers: chr15:g.68506707C>T (hg19) ; chr15:g.68214369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214369C>T , CM000677.2:g.68214369C>T	GRCh38
NC_000015.9:g.68506707C>T , CM000677.1:g.68506707C>T	GRCh37
NC_000015.8:g.66293761C>T	NCBI36
NG_008764.2:g.47843G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.218G>A MANE Select	ENSP00000249806.5:p.Trp73Ter
ENST00000562767.2:c.83+15133G>A	ENSP00000456336.1:n.83+15133G>A
ENST00000563917.2:n.60G>A
ENST00000565471.6:c.84-4610G>A	ENSP00000457384.1:n.84-4610G>A
ENST00000635747.1:c.*121G>A	ENSP00000490627.1:n.*121G>A
ENST00000635754.1:n.1240G>A
ENST00000636020.1:n.350G>A
ENST00000636212.1:c.218G>A	ENSP00000489851.1:p.Trp73Ter
ENST00000636314.1:c.103G>A	ENSP00000490295.1:p.Gly35Ser
ENST00000637054.1:c.198+4167G>A	ENSP00000490807.1:n.198+4167G>A
ENST00000637223.1:c.*121G>A	ENSP00000490010.1:n.*121G>A
ENST00000637329.1:c.129G>A
ENST00000637450.1:c.103G>A	ENSP00000490204.1:p.Gly35Ser
ENST00000637494.1:c.199-3051G>A	ENSP00000490057.1:n.199-3051G>A
ENST00000637667.1:c.199-2506G>A	ENSP00000489843.1:n.199-2506G>A
ENST00000637823.1:c.144G>A
ENST00000637888.1:c.198+4167G>A	ENSP00000490546.1:n.198+4167G>A
ENST00000638076.1:c.218G>A	ENSP00000490373.1:p.Trp73Ter
ENST00000638144.1:n.50G>A
ENST00000646164.1:c.38+4167G>A
ENST00000249806.9:c.218G>A	ENSP00000249806.5:p.Trp73Ter
ENST00000538696.5:c.314G>A	ENSP00000445770.1:p.Trp105Ter
ENST00000562767.1:c.83+15133G>A	ENSP00000456336.1:n.83+15133G>A
ENST00000564752.1:c.218G>A	ENSP00000457822.1:p.Trp73Ter
ENST00000564846.1:n.650G>A
ENST00000565471.5:c.84-4610G>A	ENSP00000457384.1:n.84-4610G>A
ENST00000566347.5:c.218G>A	ENSP00000457783.1:p.Trp73Ter
ENST00000567060.5:c.218G>A	ENSP00000454818.1:p.Trp73Ter
NM_017882.2:c.218G>A	NP_060352.1:p.Trp73Ter
XR_931861.1:n.321G>A
NM_017882.3:c.218G>A MANE Select	NP_060352.1:p.Trp73Ter