Canonical Allele Identifier: CA490911556

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501986G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209648G>A , CM000677.2:g.68209648G>A	GRCh38
NC_000015.9:g.68501986G>A , CM000677.1:g.68501986G>A	GRCh37
NC_000015.8:g.66289040G>A	NCBI36
NG_008764.2:g.52564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.654C>T MANE Select	ENSP00000249806.5:p.Gly218=
ENST00000562767.2:c.84-12020C>T	ENSP00000456336.1:n.84-12020C>T
ENST00000563917.2:n.496C>T
ENST00000565471.6:c.195C>T	ENSP00000457384.1:p.Gly65=
ENST00000635747.1:c.*557C>T	ENSP00000490627.1:n.*557C>T
ENST00000636212.1:c.*324C>T	ENSP00000489851.1:n.*324C>T
ENST00000636674.1:n.1756C>T
ENST00000636964.1:n.2182C>T
ENST00000637054.1:c.198+8888C>T	ENSP00000490807.1:n.198+8888C>T
ENST00000637329.1:c.623C>T
ENST00000637450.1:c.*308C>T	ENSP00000490204.1:n.*308C>T
ENST00000637494.1:c.366C>T	ENSP00000490057.1:p.Gly122=
ENST00000637667.1:c.555C>T	ENSP00000489843.1:p.Gly185=
ENST00000637823.1:c.479C>T
ENST00000637888.1:c.198+8888C>T	ENSP00000490546.1:n.198+8888C>T
ENST00000638076.1:c.*257C>T	ENSP00000490373.1:n.*257C>T
ENST00000638144.1:n.297C>T
ENST00000646164.1:c.38+8888C>T
ENST00000249806.9:c.654C>T	ENSP00000249806.5:p.Gly218=
ENST00000538696.5:c.750C>T	ENSP00000445770.1:p.Gly250=
ENST00000562767.1:c.84-12020C>T	ENSP00000456336.1:n.84-12020C>T
ENST00000563917.1:n.554C>T
ENST00000564752.1:c.*38C>T	ENSP00000457822.1:n.*38C>T
ENST00000565471.5:c.195C>T	ENSP00000457384.1:p.Gly65=
ENST00000566347.5:c.465C>T	ENSP00000457783.1:p.Gly155=
ENST00000567060.5:c.*52C>T	ENSP00000454818.1:n.*52C>T
NM_017882.2:c.654C>T	NP_060352.1:p.Gly218=
XR_931861.1:n.876C>T
NM_017882.3:c.654C>T MANE Select	NP_060352.1:p.Gly218=