Canonical Allele Identifier: CA392972154

Gene: CLN6

Linked Data

• ClinVar Variation Id: 888280
• ClinVar RCV Id: RCV001121502
• dbSNP Id: rs2093194119
• MyVariant Identifiers: chr15:g.68500695G>A (hg19) ; chr15:g.68208357G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208357G>A , CM000677.2:g.68208357G>A	GRCh38
NC_000015.9:g.68500695G>A , CM000677.1:g.68500695G>A	GRCh37
NC_000015.8:g.66287749G>A	NCBI36
NG_008764.2:g.53855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.719C>T MANE Select	ENSP00000249806.5:p.Ala240Val
ENST00000562767.2:c.84-10729C>T	ENSP00000456336.1:n.84-10729C>T
ENST00000565471.6:c.260C>T	ENSP00000457384.1:p.Ala87Val
ENST00000635747.1:c.*622C>T	ENSP00000490627.1:n.*622C>T
ENST00000636212.1:c.*389C>T	ENSP00000489851.1:n.*389C>T
ENST00000636674.1:n.1821C>T
ENST00000636964.1:n.2247C>T
ENST00000637054.1:c.198+10179C>T	ENSP00000490807.1:n.198+10179C>T
ENST00000637329.1:c.688C>T
ENST00000637450.1:c.*373C>T	ENSP00000490204.1:n.*373C>T
ENST00000637494.1:c.431C>T	ENSP00000490057.1:p.Ala144Val
ENST00000637667.1:c.620C>T	ENSP00000489843.1:p.Ala207Val
ENST00000637823.1:c.544C>T
ENST00000637888.1:c.198+10179C>T	ENSP00000490546.1:n.198+10179C>T
ENST00000638076.1:c.*322C>T	ENSP00000490373.1:n.*322C>T
ENST00000638144.1:n.362C>T
ENST00000646164.1:c.39-8676C>T
ENST00000249806.9:c.719C>T	ENSP00000249806.5:p.Ala240Val
ENST00000538696.5:c.815C>T	ENSP00000445770.1:p.Ala272Val
ENST00000562767.1:c.84-10729C>T	ENSP00000456336.1:n.84-10729C>T
ENST00000564752.1:c.*103C>T	ENSP00000457822.1:n.*103C>T
ENST00000565471.5:c.260C>T	ENSP00000457384.1:p.Ala87Val
ENST00000566347.5:c.530C>T	ENSP00000457783.1:p.Ala177Val
ENST00000567060.5:c.*117C>T	ENSP00000454818.1:n.*117C>T
NM_017882.2:c.719C>T	NP_060352.1:p.Ala240Val
NM_017882.3:c.719C>T MANE Select	NP_060352.1:p.Ala240Val