Canonical Allele Identifier: CA392972342

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500734T>A (hg19) ; chr15:g.68208396T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208396T>A , CM000677.2:g.68208396T>A	GRCh38
NC_000015.9:g.68500734T>A , CM000677.1:g.68500734T>A	GRCh37
NC_000015.8:g.66287788T>A	NCBI36
NG_008764.2:g.53816A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.680A>T MANE Select	ENSP00000249806.5:p.Glu227Val
ENST00000562767.2:c.84-10768A>T	ENSP00000456336.1:n.84-10768A>T
ENST00000563917.2:n.522A>T
ENST00000565471.6:c.221A>T	ENSP00000457384.1:p.Glu74Val
ENST00000635747.1:c.*583A>T	ENSP00000490627.1:n.*583A>T
ENST00000636212.1:c.*350A>T	ENSP00000489851.1:n.*350A>T
ENST00000636674.1:n.1782A>T
ENST00000636964.1:n.2208A>T
ENST00000637054.1:c.198+10140A>T	ENSP00000490807.1:n.198+10140A>T
ENST00000637329.1:c.649A>T
ENST00000637450.1:c.*334A>T	ENSP00000490204.1:n.*334A>T
ENST00000637494.1:c.392A>T	ENSP00000490057.1:p.Glu131Val
ENST00000637667.1:c.581A>T	ENSP00000489843.1:p.Glu194Val
ENST00000637823.1:c.505A>T
ENST00000637888.1:c.198+10140A>T	ENSP00000490546.1:n.198+10140A>T
ENST00000638076.1:c.*283A>T	ENSP00000490373.1:n.*283A>T
ENST00000638144.1:n.323A>T
ENST00000646164.1:c.39-8715A>T
ENST00000249806.9:c.680A>T	ENSP00000249806.5:p.Glu227Val
ENST00000538696.5:c.776A>T	ENSP00000445770.1:p.Glu259Val
ENST00000562767.1:c.84-10768A>T	ENSP00000456336.1:n.84-10768A>T
ENST00000564752.1:c.*64A>T	ENSP00000457822.1:n.*64A>T
ENST00000565471.5:c.221A>T	ENSP00000457384.1:p.Glu74Val
ENST00000566347.5:c.491A>T	ENSP00000457783.1:p.Glu164Val
ENST00000567060.5:c.*78A>T	ENSP00000454818.1:n.*78A>T
NM_017882.2:c.680A>T	NP_060352.1:p.Glu227Val
NM_017882.3:c.680A>T MANE Select	NP_060352.1:p.Glu227Val