Canonical Allele Identifier: CA392972371

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500743A>C (hg19) ; chr15:g.68208405A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208405A>C , CM000677.2:g.68208405A>C	GRCh38
NC_000015.9:g.68500743A>C , CM000677.1:g.68500743A>C	GRCh37
NC_000015.8:g.66287797A>C	NCBI36
NG_008764.2:g.53807T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.671T>G MANE Select	ENSP00000249806.5:p.Leu224Arg
ENST00000562767.2:c.84-10777T>G	ENSP00000456336.1:n.84-10777T>G
ENST00000563917.2:n.513T>G
ENST00000565471.6:c.212T>G	ENSP00000457384.1:p.Leu71Arg
ENST00000635747.1:c.*574T>G	ENSP00000490627.1:n.*574T>G
ENST00000636212.1:c.*341T>G	ENSP00000489851.1:n.*341T>G
ENST00000636674.1:n.1773T>G
ENST00000636964.1:n.2199T>G
ENST00000637054.1:c.198+10131T>G	ENSP00000490807.1:n.198+10131T>G
ENST00000637329.1:c.640T>G
ENST00000637450.1:c.*325T>G	ENSP00000490204.1:n.*325T>G
ENST00000637494.1:c.383T>G	ENSP00000490057.1:p.Leu128Arg
ENST00000637667.1:c.572T>G	ENSP00000489843.1:p.Leu191Arg
ENST00000637823.1:c.496T>G
ENST00000637888.1:c.198+10131T>G	ENSP00000490546.1:n.198+10131T>G
ENST00000638076.1:c.*274T>G	ENSP00000490373.1:n.*274T>G
ENST00000638144.1:n.314T>G
ENST00000646164.1:c.39-8724T>G
ENST00000249806.9:c.671T>G	ENSP00000249806.5:p.Leu224Arg
ENST00000538696.5:c.767T>G	ENSP00000445770.1:p.Leu256Arg
ENST00000562767.1:c.84-10777T>G	ENSP00000456336.1:n.84-10777T>G
ENST00000564752.1:c.*55T>G	ENSP00000457822.1:n.*55T>G
ENST00000565471.5:c.212T>G	ENSP00000457384.1:p.Leu71Arg
ENST00000566347.5:c.482T>G	ENSP00000457783.1:p.Leu161Arg
ENST00000567060.5:c.*69T>G	ENSP00000454818.1:n.*69T>G
NM_017882.2:c.671T>G	NP_060352.1:p.Leu224Arg
XR_931861.1:n.893T>G
NM_017882.3:c.671T>G MANE Select	NP_060352.1:p.Leu224Arg