Canonical Allele Identifier: CA392972205

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500706G>C (hg19) ; chr15:g.68208368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208368G>C , CM000677.2:g.68208368G>C	GRCh38
NC_000015.9:g.68500706G>C , CM000677.1:g.68500706G>C	GRCh37
NC_000015.8:g.66287760G>C	NCBI36
NG_008764.2:g.53844C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.708C>G MANE Select	ENSP00000249806.5:p.Phe236Leu
ENST00000562767.2:c.84-10740C>G	ENSP00000456336.1:n.84-10740C>G
ENST00000563917.2:n.550C>G
ENST00000565471.6:c.249C>G	ENSP00000457384.1:p.Phe83Leu
ENST00000635747.1:c.*611C>G	ENSP00000490627.1:n.*611C>G
ENST00000636212.1:c.*378C>G	ENSP00000489851.1:n.*378C>G
ENST00000636674.1:n.1810C>G
ENST00000636964.1:n.2236C>G
ENST00000637054.1:c.198+10168C>G	ENSP00000490807.1:n.198+10168C>G
ENST00000637329.1:c.677C>G
ENST00000637450.1:c.*362C>G	ENSP00000490204.1:n.*362C>G
ENST00000637494.1:c.420C>G	ENSP00000490057.1:p.Phe140Leu
ENST00000637667.1:c.609C>G	ENSP00000489843.1:p.Phe203Leu
ENST00000637823.1:c.533C>G
ENST00000637888.1:c.198+10168C>G	ENSP00000490546.1:n.198+10168C>G
ENST00000638076.1:c.*311C>G	ENSP00000490373.1:n.*311C>G
ENST00000638144.1:n.351C>G
ENST00000646164.1:c.39-8687C>G
ENST00000249806.9:c.708C>G	ENSP00000249806.5:p.Phe236Leu
ENST00000538696.5:c.804C>G	ENSP00000445770.1:p.Phe268Leu
ENST00000562767.1:c.84-10740C>G	ENSP00000456336.1:n.84-10740C>G
ENST00000564752.1:c.*92C>G	ENSP00000457822.1:n.*92C>G
ENST00000565471.5:c.249C>G	ENSP00000457384.1:p.Phe83Leu
ENST00000566347.5:c.519C>G	ENSP00000457783.1:p.Phe173Leu
ENST00000567060.5:c.*106C>G	ENSP00000454818.1:n.*106C>G
NM_017882.2:c.708C>G	NP_060352.1:p.Phe236Leu
NM_017882.3:c.708C>G MANE Select	NP_060352.1:p.Phe236Leu