Canonical Allele Identifier: CA7630706

Gene: CLN6

Linked Data

• ClinVar Variation Id: 836465
• ClinVar RCV Id: RCV001037601
• dbSNP Id: rs769199442
• ExAC: 15:68510953 G / T
• gnomAD v2: 15-68510953-G-T
• gnomAD v3: 15-68218615-G-T
• gnomAD v4: 15-68218615-G-T
• MyVariant Identifiers: chr15:g.68510953G>T (hg19) ; chr15:g.68218615G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218615G>T , CM000677.2:g.68218615G>T	GRCh38
NC_000015.9:g.68510953G>T , CM000677.1:g.68510953G>T	GRCh37
NC_000015.8:g.66298007G>T	NCBI36
NG_008764.2:g.43597C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.119C>A MANE Select	ENSP00000249806.5:p.Thr40Lys
ENST00000562767.2:c.83+10887C>A	ENSP00000456336.1:n.83+10887C>A
ENST00000563917.2:n.41-4227C>A
ENST00000565471.6:c.84-8856C>A	ENSP00000457384.1:n.84-8856C>A
ENST00000569336.2:n.28C>A
ENST00000635747.1:c.*22C>A	ENSP00000490627.1:n.*22C>A
ENST00000636020.1:n.251C>A
ENST00000636212.1:c.119C>A	ENSP00000489851.1:p.Thr40Lys
ENST00000636314.1:c.84-4227C>A	ENSP00000490295.1:n.84-4227C>A
ENST00000636876.1:c.*139C>A	ENSP00000489950.1:n.*139C>A
ENST00000637054.1:c.119C>A	ENSP00000490807.1:p.Thr40Lys
ENST00000637223.1:c.*22C>A	ENSP00000490010.1:n.*22C>A
ENST00000637329.1:c.30C>A
ENST00000637450.1:c.84-4227C>A	ENSP00000490204.1:n.84-4227C>A
ENST00000637494.1:c.119C>A	ENSP00000490057.1:p.Thr40Lys
ENST00000637667.1:c.119C>A	ENSP00000489843.1:p.Thr40Lys
ENST00000637823.1:c.45C>A
ENST00000637888.1:c.119C>A	ENSP00000490546.1:p.Thr40Lys
ENST00000638076.1:c.119C>A	ENSP00000490373.1:p.Thr40Lys
ENST00000638144.1:n.31-4227C>A
ENST00000249806.9:c.119C>A	ENSP00000249806.5:p.Thr40Lys
ENST00000538696.5:c.215C>A	ENSP00000445770.1:p.Thr72Lys
ENST00000562767.1:c.83+10887C>A	ENSP00000456336.1:n.83+10887C>A
ENST00000564752.1:c.119C>A	ENSP00000457822.1:p.Thr40Lys
ENST00000564846.1:n.551C>A
ENST00000565471.5:c.84-8856C>A	ENSP00000457384.1:n.84-8856C>A
ENST00000566347.5:c.119C>A	ENSP00000457783.1:p.Thr40Lys
ENST00000567060.5:c.119C>A	ENSP00000454818.1:p.Thr40Lys
ENST00000569336.1:n.205C>A
NM_017882.2:c.119C>A	NP_060352.1:p.Thr40Lys
XR_931861.1:n.222C>A
NM_017882.3:c.119C>A MANE Select	NP_060352.1:p.Thr40Lys