Canonical Allele Identifier: CA392973024

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502081G>T (hg19) ; chr15:g.68209743G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209743G>T , CM000677.2:g.68209743G>T	GRCh38
NC_000015.9:g.68502081G>T , CM000677.1:g.68502081G>T	GRCh37
NC_000015.8:g.66289135G>T	NCBI36
NG_008764.2:g.52469C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.559C>A MANE Select	ENSP00000249806.5:p.Leu187Ile
ENST00000562767.2:c.84-12115C>A	ENSP00000456336.1:n.84-12115C>A
ENST00000563917.2:n.401C>A
ENST00000565471.6:c.100C>A	ENSP00000457384.1:p.Leu34Ile
ENST00000635747.1:c.*462C>A	ENSP00000490627.1:n.*462C>A
ENST00000636212.1:c.*229C>A	ENSP00000489851.1:n.*229C>A
ENST00000636314.1:c.255C>A	ENSP00000490295.1:p.Ser85=
ENST00000636674.1:n.1661C>A
ENST00000636964.1:n.2087C>A
ENST00000637054.1:c.198+8793C>A	ENSP00000490807.1:n.198+8793C>A
ENST00000637223.1:c.*273C>A	ENSP00000490010.1:n.*273C>A
ENST00000637329.1:c.528C>A
ENST00000637450.1:c.*213C>A	ENSP00000490204.1:n.*213C>A
ENST00000637494.1:c.271C>A	ENSP00000490057.1:p.Leu91Ile
ENST00000637667.1:c.460C>A	ENSP00000489843.1:p.Leu154Ile
ENST00000637823.1:c.384C>A
ENST00000637888.1:c.198+8793C>A	ENSP00000490546.1:n.198+8793C>A
ENST00000638076.1:c.*162C>A	ENSP00000490373.1:n.*162C>A
ENST00000638144.1:n.202C>A
ENST00000646164.1:c.38+8793C>A
ENST00000249806.9:c.559C>A	ENSP00000249806.5:p.Leu187Ile
ENST00000538696.5:c.655C>A	ENSP00000445770.1:p.Leu219Ile
ENST00000562767.1:c.84-12115C>A	ENSP00000456336.1:n.84-12115C>A
ENST00000563917.1:n.459C>A
ENST00000564752.1:c.585C>A	ENSP00000457822.1:p.Ser195=
ENST00000565471.5:c.100C>A	ENSP00000457384.1:p.Leu34Ile
ENST00000566347.5:c.370C>A	ENSP00000457783.1:p.Leu124Ile
ENST00000567060.5:c.298-23C>A	ENSP00000454818.1:n.298-23C>A
NM_017882.2:c.559C>A	NP_060352.1:p.Leu187Ile
XR_931861.1:n.781C>A
NM_017882.3:c.559C>A MANE Select	NP_060352.1:p.Leu187Ile