Canonical Allele Identifier: CA490911561

Gene: CLN6

Linked Data

• dbSNP Id: rs2093198848
• gnomAD v3: 15-68209654-G-A
• gnomAD v4: 15-68209654-G-A
• MyVariant Identifiers: chr15:g.68501992G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209654G>A , CM000677.2:g.68209654G>A	GRCh38
NC_000015.9:g.68501992G>A , CM000677.1:g.68501992G>A	GRCh37
NC_000015.8:g.66289046G>A	NCBI36
NG_008764.2:g.52558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.648C>T MANE Select	ENSP00000249806.5:p.Pro216=
ENST00000562767.2:c.84-12026C>T	ENSP00000456336.1:n.84-12026C>T
ENST00000563917.2:n.490C>T
ENST00000565471.6:c.189C>T	ENSP00000457384.1:p.Pro63=
ENST00000635747.1:c.*551C>T	ENSP00000490627.1:n.*551C>T
ENST00000636212.1:c.*318C>T	ENSP00000489851.1:n.*318C>T
ENST00000636674.1:n.1750C>T
ENST00000636964.1:n.2176C>T
ENST00000637054.1:c.198+8882C>T	ENSP00000490807.1:n.198+8882C>T
ENST00000637329.1:c.617C>T
ENST00000637450.1:c.*302C>T	ENSP00000490204.1:n.*302C>T
ENST00000637494.1:c.360C>T	ENSP00000490057.1:p.Pro120=
ENST00000637667.1:c.549C>T	ENSP00000489843.1:p.Pro183=
ENST00000637823.1:c.473C>T
ENST00000637888.1:c.198+8882C>T	ENSP00000490546.1:n.198+8882C>T
ENST00000638076.1:c.*251C>T	ENSP00000490373.1:n.*251C>T
ENST00000638144.1:n.291C>T
ENST00000646164.1:c.38+8882C>T
ENST00000249806.9:c.648C>T	ENSP00000249806.5:p.Pro216=
ENST00000538696.5:c.744C>T	ENSP00000445770.1:p.Pro248=
ENST00000562767.1:c.84-12026C>T	ENSP00000456336.1:n.84-12026C>T
ENST00000563917.1:n.548C>T
ENST00000564752.1:c.*32C>T	ENSP00000457822.1:n.*32C>T
ENST00000565471.5:c.189C>T	ENSP00000457384.1:p.Pro63=
ENST00000566347.5:c.459C>T	ENSP00000457783.1:p.Pro153=
ENST00000567060.5:c.*46C>T	ENSP00000454818.1:n.*46C>T
NM_017882.2:c.648C>T	NP_060352.1:p.Pro216=
XR_931861.1:n.870C>T
NM_017882.3:c.648C>T MANE Select	NP_060352.1:p.Pro216=