Canonical Allele Identifier: CA392973505

Gene: CLN6

Linked Data

• dbSNP Id: rs1595818304
• MyVariant Identifiers: chr15:g.68504107T>G (hg19) ; chr15:g.68211769T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211769T>G , CM000677.2:g.68211769T>G	GRCh38
NC_000015.9:g.68504107T>G , CM000677.1:g.68504107T>G	GRCh37
NC_000015.8:g.66291161T>G	NCBI36
NG_008764.2:g.50443A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.392A>C MANE Select	ENSP00000249806.5:p.Asp131Ala
ENST00000562767.2:c.84-14141A>C	ENSP00000456336.1:n.84-14141A>C
ENST00000563917.2:n.234A>C
ENST00000565471.6:c.84-2010A>C	ENSP00000457384.1:n.84-2010A>C
ENST00000635747.1:c.*295A>C	ENSP00000490627.1:n.*295A>C
ENST00000636212.1:c.298-28A>C	ENSP00000489851.1:n.298-28A>C
ENST00000636314.1:c.183-451A>C	ENSP00000490295.1:n.183-451A>C
ENST00000636674.1:n.1375A>C
ENST00000636964.1:n.1564A>C
ENST00000637054.1:c.198+6767A>C	ENSP00000490807.1:n.198+6767A>C
ENST00000637223.1:c.*201-451A>C	ENSP00000490010.1:n.*201-451A>C
ENST00000637329.1:c.361A>C
ENST00000637450.1:c.*46A>C	ENSP00000490204.1:n.*46A>C
ENST00000637494.1:c.199-451A>C	ENSP00000490057.1:n.199-451A>C
ENST00000637667.1:c.293A>C	ENSP00000489843.1:p.Asp98Ala
ENST00000637823.1:c.224-126A>C
ENST00000637888.1:c.198+6767A>C	ENSP00000490546.1:n.198+6767A>C
ENST00000638076.1:c.392A>C	ENSP00000490373.1:p.Asp131Ala
ENST00000638144.1:n.130-451A>C
ENST00000646164.1:c.38+6767A>C
ENST00000249806.9:c.392A>C	ENSP00000249806.5:p.Asp131Ala
ENST00000538696.5:c.488A>C	ENSP00000445770.1:p.Asp163Ala
ENST00000562767.1:c.84-14141A>C	ENSP00000456336.1:n.84-14141A>C
ENST00000563917.1:n.173A>C
ENST00000564752.1:c.392A>C	ENSP00000457822.1:p.Asp131Ala
ENST00000565471.5:c.84-2010A>C	ENSP00000457384.1:n.84-2010A>C
ENST00000566347.5:c.298-451A>C	ENSP00000457783.1:n.298-451A>C
ENST00000567060.5:c.298-2049A>C	ENSP00000454818.1:n.298-2049A>C
NM_017882.2:c.392A>C	NP_060352.1:p.Asp131Ala
XR_931861.1:n.495A>C
NM_017882.3:c.392A>C MANE Select	NP_060352.1:p.Asp131Ala