Canonical Allele Identifier: CA392972026

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500663T>G (hg19) ; chr15:g.68208325T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208325T>G , CM000677.2:g.68208325T>G	GRCh38
NC_000015.9:g.68500663T>G , CM000677.1:g.68500663T>G	GRCh37
NC_000015.8:g.66287717T>G	NCBI36
NG_008764.2:g.53887A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.751A>C MANE Select	ENSP00000249806.5:p.Lys251Gln
ENST00000562767.2:c.84-10697A>C	ENSP00000456336.1:n.84-10697A>C
ENST00000565471.6:c.292A>C	ENSP00000457384.1:p.Lys98Gln
ENST00000635747.1:c.*654A>C	ENSP00000490627.1:n.*654A>C
ENST00000636212.1:c.*421A>C	ENSP00000489851.1:n.*421A>C
ENST00000636674.1:n.1853A>C
ENST00000636964.1:n.2279A>C
ENST00000637054.1:c.198+10211A>C	ENSP00000490807.1:n.198+10211A>C
ENST00000637329.1:c.720A>C
ENST00000637450.1:c.*405A>C	ENSP00000490204.1:n.*405A>C
ENST00000637494.1:c.463A>C	ENSP00000490057.1:p.Lys155Gln
ENST00000637667.1:c.652A>C	ENSP00000489843.1:p.Lys218Gln
ENST00000637823.1:c.576A>C
ENST00000637888.1:c.198+10211A>C	ENSP00000490546.1:n.198+10211A>C
ENST00000638076.1:c.*354A>C	ENSP00000490373.1:n.*354A>C
ENST00000638144.1:n.394A>C
ENST00000646164.1:c.39-8644A>C
ENST00000249806.9:c.751A>C	ENSP00000249806.5:p.Lys251Gln
ENST00000538696.5:c.847A>C	ENSP00000445770.1:p.Lys283Gln
ENST00000562767.1:c.84-10697A>C	ENSP00000456336.1:n.84-10697A>C
ENST00000565471.5:c.292A>C	ENSP00000457384.1:p.Lys98Gln
ENST00000566347.5:c.562A>C	ENSP00000457783.1:p.Lys188Gln
ENST00000567060.5:c.*149A>C	ENSP00000454818.1:n.*149A>C
NM_017882.2:c.751A>C	NP_060352.1:p.Lys251Gln
NM_017882.3:c.751A>C MANE Select	NP_060352.1:p.Lys251Gln