Canonical Allele Identifier: CA392971536

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500501G>C (hg19) ; chr15:g.68208163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208163G>C , CM000677.2:g.68208163G>C	GRCh38
NC_000015.9:g.68500501G>C , CM000677.1:g.68500501G>C	GRCh37
NC_000015.8:g.66287555G>C	NCBI36
NG_008764.2:g.54049C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.913C>G MANE Select	ENSP00000249806.5:p.Leu305Val
ENST00000562767.2:c.84-10535C>G	ENSP00000456336.1:n.84-10535C>G
ENST00000565471.6:c.454C>G	ENSP00000457384.1:p.Leu152Val
ENST00000635747.1:c.*816C>G	ENSP00000490627.1:n.*816C>G
ENST00000636212.1:c.*583C>G	ENSP00000489851.1:n.*583C>G
ENST00000636964.1:n.2441C>G
ENST00000637054.1:c.198+10373C>G	ENSP00000490807.1:n.198+10373C>G
ENST00000637329.1:c.882C>G
ENST00000637494.1:c.625C>G	ENSP00000490057.1:p.Leu209Val
ENST00000637888.1:c.198+10373C>G	ENSP00000490546.1:n.198+10373C>G
ENST00000638076.1:c.*516C>G	ENSP00000490373.1:n.*516C>G
ENST00000638144.1:n.556C>G
ENST00000646164.1:c.39-8482C>G
ENST00000249806.9:c.913C>G	ENSP00000249806.5:p.Leu305Val
ENST00000538696.5:c.1009C>G	ENSP00000445770.1:p.Leu337Val
ENST00000562767.1:c.84-10535C>G	ENSP00000456336.1:n.84-10535C>G
ENST00000565471.5:c.454C>G	ENSP00000457384.1:p.Leu152Val
ENST00000566347.5:c.724C>G	ENSP00000457783.1:p.Leu242Val
ENST00000567060.5:c.*311C>G	ENSP00000454818.1:n.*311C>G
NM_017882.2:c.913C>G	NP_060352.1:p.Leu305Val
NM_017882.3:c.913C>G MANE Select	NP_060352.1:p.Leu305Val