Canonical Allele Identifier: CA392972145

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500692A>T (hg19) ; chr15:g.68208354A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208354A>T , CM000677.2:g.68208354A>T	GRCh38
NC_000015.9:g.68500692A>T , CM000677.1:g.68500692A>T	GRCh37
NC_000015.8:g.66287746A>T	NCBI36
NG_008764.2:g.53858T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.722T>A MANE Select	ENSP00000249806.5:p.Met241Lys
ENST00000562767.2:c.84-10726T>A	ENSP00000456336.1:n.84-10726T>A
ENST00000565471.6:c.263T>A	ENSP00000457384.1:p.Met88Lys
ENST00000635747.1:c.*625T>A	ENSP00000490627.1:n.*625T>A
ENST00000636212.1:c.*392T>A	ENSP00000489851.1:n.*392T>A
ENST00000636674.1:n.1824T>A
ENST00000636964.1:n.2250T>A
ENST00000637054.1:c.198+10182T>A	ENSP00000490807.1:n.198+10182T>A
ENST00000637329.1:c.691T>A
ENST00000637450.1:c.*376T>A	ENSP00000490204.1:n.*376T>A
ENST00000637494.1:c.434T>A	ENSP00000490057.1:p.Met145Lys
ENST00000637667.1:c.623T>A	ENSP00000489843.1:p.Met208Lys
ENST00000637823.1:c.547T>A
ENST00000637888.1:c.198+10182T>A	ENSP00000490546.1:n.198+10182T>A
ENST00000638076.1:c.*325T>A	ENSP00000490373.1:n.*325T>A
ENST00000638144.1:n.365T>A
ENST00000646164.1:c.39-8673T>A
ENST00000249806.9:c.722T>A	ENSP00000249806.5:p.Met241Lys
ENST00000538696.5:c.818T>A	ENSP00000445770.1:p.Met273Lys
ENST00000562767.1:c.84-10726T>A	ENSP00000456336.1:n.84-10726T>A
ENST00000564752.1:c.*106T>A	ENSP00000457822.1:n.*106T>A
ENST00000565471.5:c.263T>A	ENSP00000457384.1:p.Met88Lys
ENST00000566347.5:c.533T>A	ENSP00000457783.1:p.Met178Lys
ENST00000567060.5:c.*120T>A	ENSP00000454818.1:n.*120T>A
NM_017882.2:c.722T>A	NP_060352.1:p.Met241Lys
NM_017882.3:c.722T>A MANE Select	NP_060352.1:p.Met241Lys