Canonical Allele Identifier: CA392971995

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500650A>C (hg19) ; chr15:g.68208312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208312A>C , CM000677.2:g.68208312A>C	GRCh38
NC_000015.9:g.68500650A>C , CM000677.1:g.68500650A>C	GRCh37
NC_000015.8:g.66287704A>C	NCBI36
NG_008764.2:g.53900T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.764T>G MANE Select	ENSP00000249806.5:p.Leu255Arg
ENST00000562767.2:c.84-10684T>G	ENSP00000456336.1:n.84-10684T>G
ENST00000565471.6:c.305T>G	ENSP00000457384.1:p.Leu102Arg
ENST00000635747.1:c.*667T>G	ENSP00000490627.1:n.*667T>G
ENST00000636212.1:c.*434T>G	ENSP00000489851.1:n.*434T>G
ENST00000636674.1:n.1866T>G
ENST00000636964.1:n.2292T>G
ENST00000637054.1:c.198+10224T>G	ENSP00000490807.1:n.198+10224T>G
ENST00000637329.1:c.733T>G
ENST00000637450.1:c.*418T>G	ENSP00000490204.1:n.*418T>G
ENST00000637494.1:c.476T>G	ENSP00000490057.1:p.Leu159Arg
ENST00000637667.1:c.665T>G	ENSP00000489843.1:p.Leu222Arg
ENST00000637823.1:c.589T>G
ENST00000637888.1:c.198+10224T>G	ENSP00000490546.1:n.198+10224T>G
ENST00000638076.1:c.*367T>G	ENSP00000490373.1:n.*367T>G
ENST00000638144.1:n.407T>G
ENST00000646164.1:c.39-8631T>G
ENST00000249806.9:c.764T>G	ENSP00000249806.5:p.Leu255Arg
ENST00000538696.5:c.860T>G	ENSP00000445770.1:p.Leu287Arg
ENST00000562767.1:c.84-10684T>G	ENSP00000456336.1:n.84-10684T>G
ENST00000565471.5:c.305T>G	ENSP00000457384.1:p.Leu102Arg
ENST00000566347.5:c.575T>G	ENSP00000457783.1:p.Leu192Arg
ENST00000567060.5:c.*162T>G	ENSP00000454818.1:n.*162T>G
NM_017882.2:c.764T>G	NP_060352.1:p.Leu255Arg
NM_017882.3:c.764T>G MANE Select	NP_060352.1:p.Leu255Arg