Canonical Allele Identifier: CA392972939

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502050A>C (hg19) ; chr15:g.68209712A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209712A>C , CM000677.2:g.68209712A>C	GRCh38
NC_000015.9:g.68502050A>C , CM000677.1:g.68502050A>C	GRCh37
NC_000015.8:g.66289104A>C	NCBI36
NG_008764.2:g.52500T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.590T>G MANE Select	ENSP00000249806.5:p.Phe197Cys
ENST00000562767.2:c.84-12084T>G	ENSP00000456336.1:n.84-12084T>G
ENST00000563917.2:n.432T>G
ENST00000565471.6:c.131T>G	ENSP00000457384.1:p.Phe44Cys
ENST00000635747.1:c.*493T>G	ENSP00000490627.1:n.*493T>G
ENST00000636212.1:c.*260T>G	ENSP00000489851.1:n.*260T>G
ENST00000636314.1:c.286T>G	ENSP00000490295.1:p.Leu96Val
ENST00000636674.1:n.1692T>G
ENST00000636964.1:n.2118T>G
ENST00000637054.1:c.198+8824T>G	ENSP00000490807.1:n.198+8824T>G
ENST00000637223.1:c.*304T>G	ENSP00000490010.1:n.*304T>G
ENST00000637329.1:c.559T>G
ENST00000637450.1:c.*244T>G	ENSP00000490204.1:n.*244T>G
ENST00000637494.1:c.302T>G	ENSP00000490057.1:p.Phe101Cys
ENST00000637667.1:c.491T>G	ENSP00000489843.1:p.Phe164Cys
ENST00000637823.1:c.415T>G
ENST00000637888.1:c.198+8824T>G	ENSP00000490546.1:n.198+8824T>G
ENST00000638076.1:c.*193T>G	ENSP00000490373.1:n.*193T>G
ENST00000638144.1:n.233T>G
ENST00000646164.1:c.38+8824T>G
ENST00000249806.9:c.590T>G	ENSP00000249806.5:p.Phe197Cys
ENST00000538696.5:c.686T>G	ENSP00000445770.1:p.Phe229Cys
ENST00000562767.1:c.84-12084T>G	ENSP00000456336.1:n.84-12084T>G
ENST00000563917.1:n.490T>G
ENST00000564752.1:c.616T>G	ENSP00000457822.1:p.Leu206Val
ENST00000565471.5:c.131T>G	ENSP00000457384.1:p.Phe44Cys
ENST00000566347.5:c.401T>G	ENSP00000457783.1:p.Phe134Cys
ENST00000567060.5:c.306T>G	ENSP00000454818.1:p.Leu102=
NM_017882.2:c.590T>G	NP_060352.1:p.Phe197Cys
XR_931861.1:n.812T>G
NM_017882.3:c.590T>G MANE Select	NP_060352.1:p.Phe197Cys