Canonical Allele Identifier: CA392973041

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502087A>G (hg19) ; chr15:g.68209749A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209749A>G , CM000677.2:g.68209749A>G	GRCh38
NC_000015.9:g.68502087A>G , CM000677.1:g.68502087A>G	GRCh37
NC_000015.8:g.66289141A>G	NCBI36
NG_008764.2:g.52463T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.553T>C MANE Select	ENSP00000249806.5:p.Phe185Leu
ENST00000562767.2:c.84-12121T>C	ENSP00000456336.1:n.84-12121T>C
ENST00000563917.2:n.395T>C
ENST00000565471.6:c.94T>C	ENSP00000457384.1:p.Phe32Leu
ENST00000635747.1:c.*456T>C	ENSP00000490627.1:n.*456T>C
ENST00000636212.1:c.*223T>C	ENSP00000489851.1:n.*223T>C
ENST00000636314.1:c.249T>C	ENSP00000490295.1:p.Pro83=
ENST00000636674.1:n.1655T>C
ENST00000636964.1:n.2081T>C
ENST00000637054.1:c.198+8787T>C	ENSP00000490807.1:n.198+8787T>C
ENST00000637223.1:c.*267T>C	ENSP00000490010.1:n.*267T>C
ENST00000637329.1:c.522T>C
ENST00000637450.1:c.*207T>C	ENSP00000490204.1:n.*207T>C
ENST00000637494.1:c.265T>C	ENSP00000490057.1:p.Phe89Leu
ENST00000637667.1:c.454T>C	ENSP00000489843.1:p.Phe152Leu
ENST00000637823.1:c.378T>C
ENST00000637888.1:c.198+8787T>C	ENSP00000490546.1:n.198+8787T>C
ENST00000638076.1:c.*156T>C	ENSP00000490373.1:n.*156T>C
ENST00000638144.1:n.196T>C
ENST00000646164.1:c.38+8787T>C
ENST00000249806.9:c.553T>C	ENSP00000249806.5:p.Phe185Leu
ENST00000538696.5:c.649T>C	ENSP00000445770.1:p.Phe217Leu
ENST00000562767.1:c.84-12121T>C	ENSP00000456336.1:n.84-12121T>C
ENST00000563917.1:n.453T>C
ENST00000564752.1:c.579T>C	ENSP00000457822.1:p.Pro193=
ENST00000565471.5:c.94T>C	ENSP00000457384.1:p.Phe32Leu
ENST00000566347.5:c.364T>C	ENSP00000457783.1:p.Phe122Leu
ENST00000567060.5:c.298-29T>C	ENSP00000454818.1:n.298-29T>C
NM_017882.2:c.553T>C	NP_060352.1:p.Phe185Leu
XR_931861.1:n.775T>C
NM_017882.3:c.553T>C MANE Select	NP_060352.1:p.Phe185Leu