Canonical Allele Identifier: CA392972061

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500671T>G (hg19) ; chr15:g.68208333T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208333T>G , CM000677.2:g.68208333T>G	GRCh38
NC_000015.9:g.68500671T>G , CM000677.1:g.68500671T>G	GRCh37
NC_000015.8:g.66287725T>G	NCBI36
NG_008764.2:g.53879A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.743A>C MANE Select	ENSP00000249806.5:p.Gln248Pro
ENST00000562767.2:c.84-10705A>C	ENSP00000456336.1:n.84-10705A>C
ENST00000565471.6:c.284A>C	ENSP00000457384.1:p.Gln95Pro
ENST00000635747.1:c.*646A>C	ENSP00000490627.1:n.*646A>C
ENST00000636212.1:c.*413A>C	ENSP00000489851.1:n.*413A>C
ENST00000636674.1:n.1845A>C
ENST00000636964.1:n.2271A>C
ENST00000637054.1:c.198+10203A>C	ENSP00000490807.1:n.198+10203A>C
ENST00000637329.1:c.712A>C
ENST00000637450.1:c.*397A>C	ENSP00000490204.1:n.*397A>C
ENST00000637494.1:c.455A>C	ENSP00000490057.1:p.Gln152Pro
ENST00000637667.1:c.644A>C	ENSP00000489843.1:p.Gln215Pro
ENST00000637823.1:c.568A>C
ENST00000637888.1:c.198+10203A>C	ENSP00000490546.1:n.198+10203A>C
ENST00000638076.1:c.*346A>C	ENSP00000490373.1:n.*346A>C
ENST00000638144.1:n.386A>C
ENST00000646164.1:c.39-8652A>C
ENST00000249806.9:c.743A>C	ENSP00000249806.5:p.Gln248Pro
ENST00000538696.5:c.839A>C	ENSP00000445770.1:p.Gln280Pro
ENST00000562767.1:c.84-10705A>C	ENSP00000456336.1:n.84-10705A>C
ENST00000564752.1:c.*127A>C	ENSP00000457822.1:n.*127A>C
ENST00000565471.5:c.284A>C	ENSP00000457384.1:p.Gln95Pro
ENST00000566347.5:c.554A>C	ENSP00000457783.1:p.Gln185Pro
ENST00000567060.5:c.*141A>C	ENSP00000454818.1:n.*141A>C
NM_017882.2:c.743A>C	NP_060352.1:p.Gln248Pro
NM_017882.3:c.743A>C MANE Select	NP_060352.1:p.Gln248Pro