Canonical Allele Identifier: CA392972878

Gene: CLN6

Linked Data

• dbSNP Id: rs1286806389
• MyVariant Identifiers: chr15:g.68502027A>C (hg19) ; chr15:g.68209689A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209689A>C , CM000677.2:g.68209689A>C	GRCh38
NC_000015.9:g.68502027A>C , CM000677.1:g.68502027A>C	GRCh37
NC_000015.8:g.66289081A>C	NCBI36
NG_008764.2:g.52523T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.613T>G MANE Select	ENSP00000249806.5:p.Leu205Val
ENST00000562767.2:c.84-12061T>G	ENSP00000456336.1:n.84-12061T>G
ENST00000563917.2:n.455T>G
ENST00000565471.6:c.154T>G	ENSP00000457384.1:p.Leu52Val
ENST00000635747.1:c.*516T>G	ENSP00000490627.1:n.*516T>G
ENST00000636212.1:c.*283T>G	ENSP00000489851.1:n.*283T>G
ENST00000636314.1:c.309T>G	ENSP00000490295.1:p.Ala103=
ENST00000636674.1:n.1715T>G
ENST00000636964.1:n.2141T>G
ENST00000637054.1:c.198+8847T>G	ENSP00000490807.1:n.198+8847T>G
ENST00000637329.1:c.582T>G
ENST00000637450.1:c.*267T>G	ENSP00000490204.1:n.*267T>G
ENST00000637494.1:c.325T>G	ENSP00000490057.1:p.Leu109Val
ENST00000637667.1:c.514T>G	ENSP00000489843.1:p.Leu172Val
ENST00000637823.1:c.438T>G
ENST00000637888.1:c.198+8847T>G	ENSP00000490546.1:n.198+8847T>G
ENST00000638076.1:c.*216T>G	ENSP00000490373.1:n.*216T>G
ENST00000638144.1:n.256T>G
ENST00000646164.1:c.38+8847T>G
ENST00000249806.9:c.613T>G	ENSP00000249806.5:p.Leu205Val
ENST00000538696.5:c.709T>G	ENSP00000445770.1:p.Leu237Val
ENST00000562767.1:c.84-12061T>G	ENSP00000456336.1:n.84-12061T>G
ENST00000563917.1:n.513T>G
ENST00000564752.1:c.639T>G	ENSP00000457822.1:p.Ala213=
ENST00000565471.5:c.154T>G	ENSP00000457384.1:p.Leu52Val
ENST00000566347.5:c.424T>G	ENSP00000457783.1:p.Leu142Val
ENST00000567060.5:c.*11T>G	ENSP00000454818.1:n.*11T>G
NM_017882.2:c.613T>G	NP_060352.1:p.Leu205Val
XR_931861.1:n.835T>G
NM_017882.3:c.613T>G MANE Select	NP_060352.1:p.Leu205Val