Canonical Allele Identifier: CA490911606

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502016C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209678C>A , CM000677.2:g.68209678C>A	GRCh38
NC_000015.9:g.68502016C>A , CM000677.1:g.68502016C>A	GRCh37
NC_000015.8:g.66289070C>A	NCBI36
NG_008764.2:g.52534G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.624G>T MANE Select	ENSP00000249806.5:p.Gly208=
ENST00000562767.2:c.84-12050G>T	ENSP00000456336.1:n.84-12050G>T
ENST00000563917.2:n.466G>T
ENST00000565471.6:c.165G>T	ENSP00000457384.1:p.Gly55=
ENST00000635747.1:c.*527G>T	ENSP00000490627.1:n.*527G>T
ENST00000636212.1:c.*294G>T	ENSP00000489851.1:n.*294G>T
ENST00000636314.1:c.*8G>T	ENSP00000490295.1:n.*8G>T
ENST00000636674.1:n.1726G>T
ENST00000636964.1:n.2152G>T
ENST00000637054.1:c.198+8858G>T	ENSP00000490807.1:n.198+8858G>T
ENST00000637329.1:c.593G>T
ENST00000637450.1:c.*278G>T	ENSP00000490204.1:n.*278G>T
ENST00000637494.1:c.336G>T	ENSP00000490057.1:p.Gly112=
ENST00000637667.1:c.525G>T	ENSP00000489843.1:p.Gly175=
ENST00000637823.1:c.449G>T
ENST00000637888.1:c.198+8858G>T	ENSP00000490546.1:n.198+8858G>T
ENST00000638076.1:c.*227G>T	ENSP00000490373.1:n.*227G>T
ENST00000638144.1:n.267G>T
ENST00000646164.1:c.38+8858G>T
ENST00000249806.9:c.624G>T	ENSP00000249806.5:p.Gly208=
ENST00000538696.5:c.720G>T	ENSP00000445770.1:p.Gly240=
ENST00000562767.1:c.84-12050G>T	ENSP00000456336.1:n.84-12050G>T
ENST00000563917.1:n.524G>T
ENST00000564752.1:c.*8G>T	ENSP00000457822.1:n.*8G>T
ENST00000565471.5:c.165G>T	ENSP00000457384.1:p.Gly55=
ENST00000566347.5:c.435G>T	ENSP00000457783.1:p.Gly145=
ENST00000567060.5:c.*22G>T	ENSP00000454818.1:n.*22G>T
NM_017882.2:c.624G>T	NP_060352.1:p.Gly208=
XR_931861.1:n.846G>T
NM_017882.3:c.624G>T MANE Select	NP_060352.1:p.Gly208=