Canonical Allele Identifier: CA392972989

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502068A>G (hg19) ; chr15:g.68209730A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209730A>G , CM000677.2:g.68209730A>G	GRCh38
NC_000015.9:g.68502068A>G , CM000677.1:g.68502068A>G	GRCh37
NC_000015.8:g.66289122A>G	NCBI36
NG_008764.2:g.52482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.572T>C MANE Select	ENSP00000249806.5:p.Met191Thr
ENST00000562767.2:c.84-12102T>C	ENSP00000456336.1:n.84-12102T>C
ENST00000563917.2:n.414T>C
ENST00000565471.6:c.113T>C	ENSP00000457384.1:p.Met38Thr
ENST00000635747.1:c.*475T>C	ENSP00000490627.1:n.*475T>C
ENST00000636212.1:c.*242T>C	ENSP00000489851.1:n.*242T>C
ENST00000636314.1:c.268T>C	ENSP00000490295.1:p.Cys90Arg
ENST00000636674.1:n.1674T>C
ENST00000636964.1:n.2100T>C
ENST00000637054.1:c.198+8806T>C	ENSP00000490807.1:n.198+8806T>C
ENST00000637223.1:c.*286T>C	ENSP00000490010.1:n.*286T>C
ENST00000637329.1:c.541T>C
ENST00000637450.1:c.*226T>C	ENSP00000490204.1:n.*226T>C
ENST00000637494.1:c.284T>C	ENSP00000490057.1:p.Met95Thr
ENST00000637667.1:c.473T>C	ENSP00000489843.1:p.Met158Thr
ENST00000637823.1:c.397T>C
ENST00000637888.1:c.198+8806T>C	ENSP00000490546.1:n.198+8806T>C
ENST00000638076.1:c.*175T>C	ENSP00000490373.1:n.*175T>C
ENST00000638144.1:n.215T>C
ENST00000646164.1:c.38+8806T>C
ENST00000249806.9:c.572T>C	ENSP00000249806.5:p.Met191Thr
ENST00000538696.5:c.668T>C	ENSP00000445770.1:p.Met223Thr
ENST00000562767.1:c.84-12102T>C	ENSP00000456336.1:n.84-12102T>C
ENST00000563917.1:n.472T>C
ENST00000564752.1:c.598T>C	ENSP00000457822.1:p.Cys200Arg
ENST00000565471.5:c.113T>C	ENSP00000457384.1:p.Met38Thr
ENST00000566347.5:c.383T>C	ENSP00000457783.1:p.Met128Thr
ENST00000567060.5:c.298-10T>C	ENSP00000454818.1:n.298-10T>C
NM_017882.2:c.572T>C	NP_060352.1:p.Met191Thr
XR_931861.1:n.794T>C
NM_017882.3:c.572T>C MANE Select	NP_060352.1:p.Met191Thr