Canonical Allele Identifier: CA392972021

Gene: CLN6

Linked Data

• dbSNP Id: rs2141136050
• MyVariant Identifiers: chr15:g.68500662T>G (hg19) ; chr15:g.68208324T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208324T>G , CM000677.2:g.68208324T>G	GRCh38
NC_000015.9:g.68500662T>G , CM000677.1:g.68500662T>G	GRCh37
NC_000015.8:g.66287716T>G	NCBI36
NG_008764.2:g.53888A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.752A>C MANE Select	ENSP00000249806.5:p.Lys251Thr
ENST00000562767.2:c.84-10696A>C	ENSP00000456336.1:n.84-10696A>C
ENST00000565471.6:c.293A>C	ENSP00000457384.1:p.Lys98Thr
ENST00000635747.1:c.*655A>C	ENSP00000490627.1:n.*655A>C
ENST00000636212.1:c.*422A>C	ENSP00000489851.1:n.*422A>C
ENST00000636674.1:n.1854A>C
ENST00000636964.1:n.2280A>C
ENST00000637054.1:c.198+10212A>C	ENSP00000490807.1:n.198+10212A>C
ENST00000637329.1:c.721A>C
ENST00000637450.1:c.*406A>C	ENSP00000490204.1:n.*406A>C
ENST00000637494.1:c.464A>C	ENSP00000490057.1:p.Lys155Thr
ENST00000637667.1:c.653A>C	ENSP00000489843.1:p.Lys218Thr
ENST00000637823.1:c.577A>C
ENST00000637888.1:c.198+10212A>C	ENSP00000490546.1:n.198+10212A>C
ENST00000638076.1:c.*355A>C	ENSP00000490373.1:n.*355A>C
ENST00000638144.1:n.395A>C
ENST00000646164.1:c.39-8643A>C
ENST00000249806.9:c.752A>C	ENSP00000249806.5:p.Lys251Thr
ENST00000538696.5:c.848A>C	ENSP00000445770.1:p.Lys283Thr
ENST00000562767.1:c.84-10696A>C	ENSP00000456336.1:n.84-10696A>C
ENST00000565471.5:c.293A>C	ENSP00000457384.1:p.Lys98Thr
ENST00000566347.5:c.563A>C	ENSP00000457783.1:p.Lys188Thr
ENST00000567060.5:c.*150A>C	ENSP00000454818.1:n.*150A>C
NM_017882.2:c.752A>C	NP_060352.1:p.Lys251Thr
NM_017882.3:c.752A>C MANE Select	NP_060352.1:p.Lys251Thr