Canonical Allele Identifier: CA490913730

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1106056
• ClinVar RCV Id: RCV001430679
• dbSNP Id: rs2141141422
• MyVariant Identifiers: chr15:g.68506637G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214299G>C , CM000677.2:g.68214299G>C	GRCh38
NC_000015.9:g.68506637G>C , CM000677.1:g.68506637G>C	GRCh37
NC_000015.8:g.66293691G>C	NCBI36
NG_008764.2:g.47913C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.288C>G MANE Select	ENSP00000249806.5:p.Leu96=
ENST00000562767.2:c.83+15203C>G	ENSP00000456336.1:n.83+15203C>G
ENST00000563917.2:n.130C>G
ENST00000565471.6:c.84-4540C>G	ENSP00000457384.1:n.84-4540C>G
ENST00000635747.1:c.*191C>G	ENSP00000490627.1:n.*191C>G
ENST00000635754.1:n.1310C>G
ENST00000636020.1:n.420C>G
ENST00000636212.1:c.288C>G	ENSP00000489851.1:p.Leu96=
ENST00000636314.1:c.173C>G	ENSP00000490295.1:p.Ser58Cys
ENST00000637054.1:c.198+4237C>G	ENSP00000490807.1:n.198+4237C>G
ENST00000637223.1:c.*191C>G	ENSP00000490010.1:n.*191C>G
ENST00000637329.1:c.199C>G
ENST00000637450.1:c.173C>G	ENSP00000490204.1:p.Ser58Cys
ENST00000637494.1:c.199-2981C>G	ENSP00000490057.1:n.199-2981C>G
ENST00000637667.1:c.199-2436C>G	ENSP00000489843.1:n.199-2436C>G
ENST00000637823.1:c.214C>G
ENST00000637888.1:c.198+4237C>G	ENSP00000490546.1:n.198+4237C>G
ENST00000638076.1:c.288C>G	ENSP00000490373.1:p.Leu96=
ENST00000638144.1:n.120C>G
ENST00000646164.1:c.38+4237C>G
ENST00000249806.9:c.288C>G	ENSP00000249806.5:p.Leu96=
ENST00000538696.5:c.384C>G	ENSP00000445770.1:p.Leu128=
ENST00000562767.1:c.83+15203C>G	ENSP00000456336.1:n.83+15203C>G
ENST00000563917.1:n.69C>G
ENST00000564752.1:c.288C>G	ENSP00000457822.1:p.Leu96=
ENST00000564846.1:n.720C>G
ENST00000565471.5:c.84-4540C>G	ENSP00000457384.1:n.84-4540C>G
ENST00000566347.5:c.288C>G	ENSP00000457783.1:p.Leu96=
ENST00000567060.5:c.288C>G	ENSP00000454818.1:p.Leu96=
NM_017882.2:c.288C>G	NP_060352.1:p.Leu96=
XR_931861.1:n.391C>G
NM_017882.3:c.288C>G MANE Select	NP_060352.1:p.Leu96=