Canonical Allele Identifier: CA491099975

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2845980
• ClinVar RCV Id: RCV003648458
• MyVariant Identifiers: chr15:g.68500637G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208299G>A , CM000677.2:g.68208299G>A	GRCh38
NC_000015.9:g.68500637G>A , CM000677.1:g.68500637G>A	GRCh37
NC_000015.8:g.66287691G>A	NCBI36
NG_008764.2:g.53913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.777C>T MANE Select	ENSP00000249806.5:p.Gly259=
ENST00000562767.2:c.84-10671C>T	ENSP00000456336.1:n.84-10671C>T
ENST00000565471.6:c.318C>T	ENSP00000457384.1:p.Gly106=
ENST00000635747.1:c.*680C>T	ENSP00000490627.1:n.*680C>T
ENST00000636212.1:c.*447C>T	ENSP00000489851.1:n.*447C>T
ENST00000636674.1:n.1879C>T
ENST00000636964.1:n.2305C>T
ENST00000637054.1:c.198+10237C>T	ENSP00000490807.1:n.198+10237C>T
ENST00000637329.1:c.746C>T
ENST00000637450.1:c.*431C>T	ENSP00000490204.1:n.*431C>T
ENST00000637494.1:c.489C>T	ENSP00000490057.1:p.Gly163=
ENST00000637667.1:c.678C>T	ENSP00000489843.1:p.Gly226=
ENST00000637823.1:c.602C>T
ENST00000637888.1:c.198+10237C>T	ENSP00000490546.1:n.198+10237C>T
ENST00000638076.1:c.*380C>T	ENSP00000490373.1:n.*380C>T
ENST00000638144.1:n.420C>T
ENST00000646164.1:c.39-8618C>T
ENST00000249806.9:c.777C>T	ENSP00000249806.5:p.Gly259=
ENST00000538696.5:c.873C>T	ENSP00000445770.1:p.Gly291=
ENST00000562767.1:c.84-10671C>T	ENSP00000456336.1:n.84-10671C>T
ENST00000565471.5:c.318C>T	ENSP00000457384.1:p.Gly106=
ENST00000566347.5:c.588C>T	ENSP00000457783.1:p.Gly196=
ENST00000567060.5:c.*175C>T	ENSP00000454818.1:n.*175C>T
NM_017882.2:c.777C>T	NP_060352.1:p.Gly259=
NM_017882.3:c.777C>T MANE Select	NP_060352.1:p.Gly259=