Canonical Allele Identifier: CA392972941

Gene: CLN6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.590T>A MANE Select	ENSP00000249806.5:p.Phe197Tyr
ENST00000562767.2:c.84-12084T>A	ENSP00000456336.1:n.84-12084T>A
ENST00000563917.2:n.432T>A
ENST00000565471.6:c.131T>A	ENSP00000457384.1:p.Phe44Tyr
ENST00000635747.1:c.*493T>A	ENSP00000490627.1:n.*493T>A
ENST00000636212.1:c.*260T>A	ENSP00000489851.1:n.*260T>A
ENST00000636314.1:c.286T>A	ENSP00000490295.1:p.Leu96Ile
ENST00000636674.1:n.1692T>A
ENST00000636964.1:n.2118T>A
ENST00000637054.1:c.198+8824T>A	ENSP00000490807.1:n.198+8824T>A
ENST00000637223.1:c.*304T>A	ENSP00000490010.1:n.*304T>A
ENST00000637329.1:c.559T>A
ENST00000637450.1:c.*244T>A	ENSP00000490204.1:n.*244T>A
ENST00000637494.1:c.302T>A	ENSP00000490057.1:p.Phe101Tyr
ENST00000637667.1:c.491T>A	ENSP00000489843.1:p.Phe164Tyr
ENST00000637823.1:c.415T>A
ENST00000637888.1:c.198+8824T>A	ENSP00000490546.1:n.198+8824T>A
ENST00000638076.1:c.*193T>A	ENSP00000490373.1:n.*193T>A
ENST00000638144.1:n.233T>A
ENST00000646164.1:c.38+8824T>A
ENST00000249806.9:c.590T>A	ENSP00000249806.5:p.Phe197Tyr
ENST00000538696.5:c.686T>A	ENSP00000445770.1:p.Phe229Tyr
ENST00000562767.1:c.84-12084T>A	ENSP00000456336.1:n.84-12084T>A
ENST00000563917.1:n.490T>A
ENST00000564752.1:c.616T>A	ENSP00000457822.1:p.Leu206Ile
ENST00000565471.5:c.131T>A	ENSP00000457384.1:p.Phe44Tyr
ENST00000566347.5:c.401T>A	ENSP00000457783.1:p.Phe134Tyr
ENST00000567060.5:c.306T>A	ENSP00000454818.1:p.Leu102=
NM_017882.2:c.590T>A	NP_060352.1:p.Phe197Tyr
XR_931861.1:n.812T>A
NM_017882.3:c.590T>A MANE Select	NP_060352.1:p.Phe197Tyr