Canonical Allele Identifier: CA392972230

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500711T>C (hg19) ; chr15:g.68208373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208373T>C , CM000677.2:g.68208373T>C	GRCh38
NC_000015.9:g.68500711T>C , CM000677.1:g.68500711T>C	GRCh37
NC_000015.8:g.66287765T>C	NCBI36
NG_008764.2:g.53839A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.703A>G MANE Select	ENSP00000249806.5:p.Ile235Val
ENST00000562767.2:c.84-10745A>G	ENSP00000456336.1:n.84-10745A>G
ENST00000563917.2:n.545A>G
ENST00000565471.6:c.244A>G	ENSP00000457384.1:p.Ile82Val
ENST00000635747.1:c.*606A>G	ENSP00000490627.1:n.*606A>G
ENST00000636212.1:c.*373A>G	ENSP00000489851.1:n.*373A>G
ENST00000636674.1:n.1805A>G
ENST00000636964.1:n.2231A>G
ENST00000637054.1:c.198+10163A>G	ENSP00000490807.1:n.198+10163A>G
ENST00000637329.1:c.672A>G
ENST00000637450.1:c.*357A>G	ENSP00000490204.1:n.*357A>G
ENST00000637494.1:c.415A>G	ENSP00000490057.1:p.Ile139Val
ENST00000637667.1:c.604A>G	ENSP00000489843.1:p.Ile202Val
ENST00000637823.1:c.528A>G
ENST00000637888.1:c.198+10163A>G	ENSP00000490546.1:n.198+10163A>G
ENST00000638076.1:c.*306A>G	ENSP00000490373.1:n.*306A>G
ENST00000638144.1:n.346A>G
ENST00000646164.1:c.39-8692A>G
ENST00000249806.9:c.703A>G	ENSP00000249806.5:p.Ile235Val
ENST00000538696.5:c.799A>G	ENSP00000445770.1:p.Ile267Val
ENST00000562767.1:c.84-10745A>G	ENSP00000456336.1:n.84-10745A>G
ENST00000564752.1:c.*87A>G	ENSP00000457822.1:n.*87A>G
ENST00000565471.5:c.244A>G	ENSP00000457384.1:p.Ile82Val
ENST00000566347.5:c.514A>G	ENSP00000457783.1:p.Ile172Val
ENST00000567060.5:c.*101A>G	ENSP00000454818.1:n.*101A>G
NM_017882.2:c.703A>G	NP_060352.1:p.Ile235Val
NM_017882.3:c.703A>G MANE Select	NP_060352.1:p.Ile235Val