Canonical Allele Identifier: CA272390318

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1400609
• ClinVar RCV Id: RCV001911402 ; RCV002359384
• dbSNP Id: rs1034192926
• gnomAD v2: 15-68510952-C-T
• gnomAD v3: 15-68218614-C-T
• gnomAD v4: 15-68218614-C-T
• MyVariant Identifiers: chr15:g.68510952C>T (hg19) ; chr15:g.68218614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218614C>T , CM000677.2:g.68218614C>T	GRCh38
NC_000015.9:g.68510952C>T , CM000677.1:g.68510952C>T	GRCh37
NC_000015.8:g.66298006C>T	NCBI36
NG_008764.2:g.43598G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.120G>A MANE Select	ENSP00000249806.5:p.Thr40=
ENST00000562767.2:c.83+10888G>A	ENSP00000456336.1:n.83+10888G>A
ENST00000563917.2:n.41-4226G>A
ENST00000565471.6:c.84-8855G>A	ENSP00000457384.1:n.84-8855G>A
ENST00000569336.2:n.29G>A
ENST00000635747.1:c.*23G>A	ENSP00000490627.1:n.*23G>A
ENST00000636020.1:n.252G>A
ENST00000636212.1:c.120G>A	ENSP00000489851.1:p.Thr40=
ENST00000636314.1:c.84-4226G>A	ENSP00000490295.1:n.84-4226G>A
ENST00000636876.1:c.*140G>A	ENSP00000489950.1:n.*140G>A
ENST00000637054.1:c.120G>A	ENSP00000490807.1:p.Thr40=
ENST00000637223.1:c.*23G>A	ENSP00000490010.1:n.*23G>A
ENST00000637329.1:c.31G>A
ENST00000637450.1:c.84-4226G>A	ENSP00000490204.1:n.84-4226G>A
ENST00000637494.1:c.120G>A	ENSP00000490057.1:p.Thr40=
ENST00000637667.1:c.120G>A	ENSP00000489843.1:p.Thr40=
ENST00000637823.1:c.46G>A
ENST00000637888.1:c.120G>A	ENSP00000490546.1:p.Thr40=
ENST00000638076.1:c.120G>A	ENSP00000490373.1:p.Thr40=
ENST00000638144.1:n.31-4226G>A
ENST00000249806.9:c.120G>A	ENSP00000249806.5:p.Thr40=
ENST00000538696.5:c.216G>A	ENSP00000445770.1:p.Thr72=
ENST00000562767.1:c.83+10888G>A	ENSP00000456336.1:n.83+10888G>A
ENST00000564752.1:c.120G>A	ENSP00000457822.1:p.Thr40=
ENST00000564846.1:n.552G>A
ENST00000565471.5:c.84-8855G>A	ENSP00000457384.1:n.84-8855G>A
ENST00000566347.5:c.120G>A	ENSP00000457783.1:p.Thr40=
ENST00000567060.5:c.120G>A	ENSP00000454818.1:p.Thr40=
ENST00000569336.1:n.206G>A
NM_017882.2:c.120G>A	NP_060352.1:p.Thr40=
XR_931861.1:n.223G>A
NM_017882.3:c.120G>A MANE Select	NP_060352.1:p.Thr40=