Canonical Allele Identifier: CA392972994

Gene: CLN6

Linked Data

• dbSNP Id: rs2093199169
• MyVariant Identifiers: chr15:g.68502070G>A (hg19) ; chr15:g.68209732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209732G>A , CM000677.2:g.68209732G>A	GRCh38
NC_000015.9:g.68502070G>A , CM000677.1:g.68502070G>A	GRCh37
NC_000015.8:g.66289124G>A	NCBI36
NG_008764.2:g.52480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.570C>T MANE Select	ENSP00000249806.5:p.Phe190=
ENST00000562767.2:c.84-12104C>T	ENSP00000456336.1:n.84-12104C>T
ENST00000563917.2:n.412C>T
ENST00000565471.6:c.111C>T	ENSP00000457384.1:p.Phe37=
ENST00000635747.1:c.*473C>T	ENSP00000490627.1:n.*473C>T
ENST00000636212.1:c.*240C>T	ENSP00000489851.1:n.*240C>T
ENST00000636314.1:c.266C>T	ENSP00000490295.1:p.Ser89Leu
ENST00000636674.1:n.1672C>T
ENST00000636964.1:n.2098C>T
ENST00000637054.1:c.198+8804C>T	ENSP00000490807.1:n.198+8804C>T
ENST00000637223.1:c.*284C>T	ENSP00000490010.1:n.*284C>T
ENST00000637329.1:c.539C>T
ENST00000637450.1:c.*224C>T	ENSP00000490204.1:n.*224C>T
ENST00000637494.1:c.282C>T	ENSP00000490057.1:p.Phe94=
ENST00000637667.1:c.471C>T	ENSP00000489843.1:p.Phe157=
ENST00000637823.1:c.395C>T
ENST00000637888.1:c.198+8804C>T	ENSP00000490546.1:n.198+8804C>T
ENST00000638076.1:c.*173C>T	ENSP00000490373.1:n.*173C>T
ENST00000638144.1:n.213C>T
ENST00000646164.1:c.38+8804C>T
ENST00000249806.9:c.570C>T	ENSP00000249806.5:p.Phe190=
ENST00000538696.5:c.666C>T	ENSP00000445770.1:p.Phe222=
ENST00000562767.1:c.84-12104C>T	ENSP00000456336.1:n.84-12104C>T
ENST00000563917.1:n.470C>T
ENST00000564752.1:c.596C>T	ENSP00000457822.1:p.Ser199Leu
ENST00000565471.5:c.111C>T	ENSP00000457384.1:p.Phe37=
ENST00000566347.5:c.381C>T	ENSP00000457783.1:p.Phe127=
ENST00000567060.5:c.298-12C>T	ENSP00000454818.1:n.298-12C>T
NM_017882.2:c.570C>T	NP_060352.1:p.Phe190=
XR_931861.1:n.792C>T
NM_017882.3:c.570C>T MANE Select	NP_060352.1:p.Phe190=