Canonical Allele Identifier: CA392974315

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68506632A>C (hg19) ; chr15:g.68214294A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214294A>C , CM000677.2:g.68214294A>C	GRCh38
NC_000015.9:g.68506632A>C , CM000677.1:g.68506632A>C	GRCh37
NC_000015.8:g.66293686A>C	NCBI36
NG_008764.2:g.47918T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.293T>G MANE Select	ENSP00000249806.5:p.Leu98Arg
ENST00000562767.2:c.83+15208T>G	ENSP00000456336.1:n.83+15208T>G
ENST00000563917.2:n.135T>G
ENST00000565471.6:c.84-4535T>G	ENSP00000457384.1:n.84-4535T>G
ENST00000635747.1:c.*196T>G	ENSP00000490627.1:n.*196T>G
ENST00000635754.1:n.1315T>G
ENST00000636020.1:n.425T>G
ENST00000636212.1:c.293T>G	ENSP00000489851.1:p.Leu98Arg
ENST00000636314.1:c.178T>G	ENSP00000490295.1:p.Ser60Ala
ENST00000637054.1:c.198+4242T>G	ENSP00000490807.1:n.198+4242T>G
ENST00000637223.1:c.*196T>G	ENSP00000490010.1:n.*196T>G
ENST00000637329.1:c.204T>G
ENST00000637450.1:c.178T>G	ENSP00000490204.1:p.Ser60Ala
ENST00000637494.1:c.199-2976T>G	ENSP00000490057.1:n.199-2976T>G
ENST00000637667.1:c.199-2431T>G	ENSP00000489843.1:n.199-2431T>G
ENST00000637823.1:c.219T>G
ENST00000637888.1:c.198+4242T>G	ENSP00000490546.1:n.198+4242T>G
ENST00000638076.1:c.293T>G	ENSP00000490373.1:p.Leu98Arg
ENST00000638144.1:n.125T>G
ENST00000646164.1:c.38+4242T>G
ENST00000249806.9:c.293T>G	ENSP00000249806.5:p.Leu98Arg
ENST00000538696.5:c.389T>G	ENSP00000445770.1:p.Leu130Arg
ENST00000562767.1:c.83+15208T>G	ENSP00000456336.1:n.83+15208T>G
ENST00000563917.1:n.74T>G
ENST00000564752.1:c.293T>G	ENSP00000457822.1:p.Leu98Arg
ENST00000564846.1:n.725T>G
ENST00000565471.5:c.84-4535T>G	ENSP00000457384.1:n.84-4535T>G
ENST00000566347.5:c.293T>G	ENSP00000457783.1:p.Leu98Arg
ENST00000567060.5:c.293T>G	ENSP00000454818.1:p.Leu98Arg
NM_017882.2:c.293T>G	NP_060352.1:p.Leu98Arg
XR_931861.1:n.396T>G
NM_017882.3:c.293T>G MANE Select	NP_060352.1:p.Leu98Arg