Canonical Allele Identifier: CA392972010

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500656A>C (hg19) ; chr15:g.68208318A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208318A>C , CM000677.2:g.68208318A>C	GRCh38
NC_000015.9:g.68500656A>C , CM000677.1:g.68500656A>C	GRCh37
NC_000015.8:g.66287710A>C	NCBI36
NG_008764.2:g.53894T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.758T>G MANE Select	ENSP00000249806.5:p.Leu253Arg
ENST00000562767.2:c.84-10690T>G	ENSP00000456336.1:n.84-10690T>G
ENST00000565471.6:c.299T>G	ENSP00000457384.1:p.Leu100Arg
ENST00000635747.1:c.*661T>G	ENSP00000490627.1:n.*661T>G
ENST00000636212.1:c.*428T>G	ENSP00000489851.1:n.*428T>G
ENST00000636674.1:n.1860T>G
ENST00000636964.1:n.2286T>G
ENST00000637054.1:c.198+10218T>G	ENSP00000490807.1:n.198+10218T>G
ENST00000637329.1:c.727T>G
ENST00000637450.1:c.*412T>G	ENSP00000490204.1:n.*412T>G
ENST00000637494.1:c.470T>G	ENSP00000490057.1:p.Leu157Arg
ENST00000637667.1:c.659T>G	ENSP00000489843.1:p.Leu220Arg
ENST00000637823.1:c.583T>G
ENST00000637888.1:c.198+10218T>G	ENSP00000490546.1:n.198+10218T>G
ENST00000638076.1:c.*361T>G	ENSP00000490373.1:n.*361T>G
ENST00000638144.1:n.401T>G
ENST00000646164.1:c.39-8637T>G
ENST00000249806.9:c.758T>G	ENSP00000249806.5:p.Leu253Arg
ENST00000538696.5:c.854T>G	ENSP00000445770.1:p.Leu285Arg
ENST00000562767.1:c.84-10690T>G	ENSP00000456336.1:n.84-10690T>G
ENST00000565471.5:c.299T>G	ENSP00000457384.1:p.Leu100Arg
ENST00000566347.5:c.569T>G	ENSP00000457783.1:p.Leu190Arg
ENST00000567060.5:c.*156T>G	ENSP00000454818.1:n.*156T>G
NM_017882.2:c.758T>G	NP_060352.1:p.Leu253Arg
NM_017882.3:c.758T>G MANE Select	NP_060352.1:p.Leu253Arg