Canonical Allele Identifier: CA392972238

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500713A>C (hg19) ; chr15:g.68208375A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208375A>C , CM000677.2:g.68208375A>C	GRCh38
NC_000015.9:g.68500713A>C , CM000677.1:g.68500713A>C	GRCh37
NC_000015.8:g.66287767A>C	NCBI36
NG_008764.2:g.53837T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.701T>G MANE Select	ENSP00000249806.5:p.Phe234Cys
ENST00000562767.2:c.84-10747T>G	ENSP00000456336.1:n.84-10747T>G
ENST00000563917.2:n.543T>G
ENST00000565471.6:c.242T>G	ENSP00000457384.1:p.Phe81Cys
ENST00000635747.1:c.*604T>G	ENSP00000490627.1:n.*604T>G
ENST00000636212.1:c.*371T>G	ENSP00000489851.1:n.*371T>G
ENST00000636674.1:n.1803T>G
ENST00000636964.1:n.2229T>G
ENST00000637054.1:c.198+10161T>G	ENSP00000490807.1:n.198+10161T>G
ENST00000637329.1:c.670T>G
ENST00000637450.1:c.*355T>G	ENSP00000490204.1:n.*355T>G
ENST00000637494.1:c.413T>G	ENSP00000490057.1:p.Phe138Cys
ENST00000637667.1:c.602T>G	ENSP00000489843.1:p.Phe201Cys
ENST00000637823.1:c.526T>G
ENST00000637888.1:c.198+10161T>G	ENSP00000490546.1:n.198+10161T>G
ENST00000638076.1:c.*304T>G	ENSP00000490373.1:n.*304T>G
ENST00000638144.1:n.344T>G
ENST00000646164.1:c.39-8694T>G
ENST00000249806.9:c.701T>G	ENSP00000249806.5:p.Phe234Cys
ENST00000538696.5:c.797T>G	ENSP00000445770.1:p.Phe266Cys
ENST00000562767.1:c.84-10747T>G	ENSP00000456336.1:n.84-10747T>G
ENST00000564752.1:c.*85T>G	ENSP00000457822.1:n.*85T>G
ENST00000565471.5:c.242T>G	ENSP00000457384.1:p.Phe81Cys
ENST00000566347.5:c.512T>G	ENSP00000457783.1:p.Phe171Cys
ENST00000567060.5:c.*99T>G	ENSP00000454818.1:n.*99T>G
NM_017882.2:c.701T>G	NP_060352.1:p.Phe234Cys
NM_017882.3:c.701T>G MANE Select	NP_060352.1:p.Phe234Cys