Canonical Allele Identifier: CA392972899

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502034A>C (hg19) ; chr15:g.68209696A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209696A>C , CM000677.2:g.68209696A>C	GRCh38
NC_000015.9:g.68502034A>C , CM000677.1:g.68502034A>C	GRCh37
NC_000015.8:g.66289088A>C	NCBI36
NG_008764.2:g.52516T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.606T>G MANE Select	ENSP00000249806.5:p.Ala202=
ENST00000562767.2:c.84-12068T>G	ENSP00000456336.1:n.84-12068T>G
ENST00000563917.2:n.448T>G
ENST00000565471.6:c.147T>G	ENSP00000457384.1:p.Ala49=
ENST00000635747.1:c.*509T>G	ENSP00000490627.1:n.*509T>G
ENST00000636212.1:c.*276T>G	ENSP00000489851.1:n.*276T>G
ENST00000636314.1:c.302T>G	ENSP00000490295.1:p.Leu101Arg
ENST00000636674.1:n.1708T>G
ENST00000636964.1:n.2134T>G
ENST00000637054.1:c.198+8840T>G	ENSP00000490807.1:n.198+8840T>G
ENST00000637329.1:c.575T>G
ENST00000637450.1:c.*260T>G	ENSP00000490204.1:n.*260T>G
ENST00000637494.1:c.318T>G	ENSP00000490057.1:p.Ala106=
ENST00000637667.1:c.507T>G	ENSP00000489843.1:p.Ala169=
ENST00000637823.1:c.431T>G
ENST00000637888.1:c.198+8840T>G	ENSP00000490546.1:n.198+8840T>G
ENST00000638076.1:c.*209T>G	ENSP00000490373.1:n.*209T>G
ENST00000638144.1:n.249T>G
ENST00000646164.1:c.38+8840T>G
ENST00000249806.9:c.606T>G	ENSP00000249806.5:p.Ala202=
ENST00000538696.5:c.702T>G	ENSP00000445770.1:p.Ala234=
ENST00000562767.1:c.84-12068T>G	ENSP00000456336.1:n.84-12068T>G
ENST00000563917.1:n.506T>G
ENST00000564752.1:c.632T>G	ENSP00000457822.1:p.Leu211Arg
ENST00000565471.5:c.147T>G	ENSP00000457384.1:p.Ala49=
ENST00000566347.5:c.417T>G	ENSP00000457783.1:p.Ala139=
ENST00000567060.5:c.*4T>G	ENSP00000454818.1:n.*4T>G
NM_017882.2:c.606T>G	NP_060352.1:p.Ala202=
XR_931861.1:n.828T>G
NM_017882.3:c.606T>G MANE Select	NP_060352.1:p.Ala202=