Canonical Allele Identifier: CA7630620

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1092065
• ClinVar RCV Id: RCV001411775
• dbSNP Id: rs765719755
• ExAC: 15:68504157 G / A
• gnomAD v4: 15-68211819-G-A
• MyVariant Identifiers: chr15:g.68504157G>A (hg19) ; chr15:g.68211819G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211819G>A , CM000677.2:g.68211819G>A	GRCh38
NC_000015.9:g.68504157G>A , CM000677.1:g.68504157G>A	GRCh37
NC_000015.8:g.66291211G>A	NCBI36
NG_008764.2:g.50393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.342C>T MANE Select	ENSP00000249806.5:p.Tyr114=
ENST00000562767.2:c.84-14191C>T	ENSP00000456336.1:n.84-14191C>T
ENST00000563917.2:n.184C>T
ENST00000565471.6:c.84-2060C>T	ENSP00000457384.1:n.84-2060C>T
ENST00000635747.1:c.*245C>T	ENSP00000490627.1:n.*245C>T
ENST00000636212.1:c.298-78C>T	ENSP00000489851.1:n.298-78C>T
ENST00000636314.1:c.183-501C>T	ENSP00000490295.1:n.183-501C>T
ENST00000636674.1:n.1325C>T
ENST00000636964.1:n.1514C>T
ENST00000637054.1:c.198+6717C>T	ENSP00000490807.1:n.198+6717C>T
ENST00000637223.1:c.*201-501C>T	ENSP00000490010.1:n.*201-501C>T
ENST00000637329.1:c.311C>T
ENST00000637450.1:c.227C>T	ENSP00000490204.1:p.Thr76Met
ENST00000637494.1:c.199-501C>T	ENSP00000490057.1:n.199-501C>T
ENST00000637667.1:c.243C>T	ENSP00000489843.1:p.Tyr81=
ENST00000637823.1:c.224-176C>T
ENST00000637888.1:c.198+6717C>T	ENSP00000490546.1:n.198+6717C>T
ENST00000638076.1:c.342C>T	ENSP00000490373.1:p.Tyr114=
ENST00000638144.1:n.130-501C>T
ENST00000646164.1:c.38+6717C>T
ENST00000249806.9:c.342C>T	ENSP00000249806.5:p.Tyr114=
ENST00000538696.5:c.438C>T	ENSP00000445770.1:p.Tyr146=
ENST00000562767.1:c.84-14191C>T	ENSP00000456336.1:n.84-14191C>T
ENST00000563917.1:n.123C>T
ENST00000564752.1:c.342C>T	ENSP00000457822.1:p.Tyr114=
ENST00000565471.5:c.84-2060C>T	ENSP00000457384.1:n.84-2060C>T
ENST00000566347.5:c.298-501C>T	ENSP00000457783.1:n.298-501C>T
ENST00000567060.5:c.298-2099C>T	ENSP00000454818.1:n.298-2099C>T
NM_017882.2:c.342C>T	NP_060352.1:p.Tyr114=
XR_931861.1:n.445C>T
NM_017882.3:c.342C>T MANE Select	NP_060352.1:p.Tyr114=