Canonical Allele Identifier: CA392972050

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500669T>G (hg19) ; chr15:g.68208331T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208331T>G , CM000677.2:g.68208331T>G	GRCh38
NC_000015.9:g.68500669T>G , CM000677.1:g.68500669T>G	GRCh37
NC_000015.8:g.66287723T>G	NCBI36
NG_008764.2:g.53881A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.745A>C MANE Select	ENSP00000249806.5:p.Lys249Gln
ENST00000562767.2:c.84-10703A>C	ENSP00000456336.1:n.84-10703A>C
ENST00000565471.6:c.286A>C	ENSP00000457384.1:p.Lys96Gln
ENST00000635747.1:c.*648A>C	ENSP00000490627.1:n.*648A>C
ENST00000636212.1:c.*415A>C	ENSP00000489851.1:n.*415A>C
ENST00000636674.1:n.1847A>C
ENST00000636964.1:n.2273A>C
ENST00000637054.1:c.198+10205A>C	ENSP00000490807.1:n.198+10205A>C
ENST00000637329.1:c.714A>C
ENST00000637450.1:c.*399A>C	ENSP00000490204.1:n.*399A>C
ENST00000637494.1:c.457A>C	ENSP00000490057.1:p.Lys153Gln
ENST00000637667.1:c.646A>C	ENSP00000489843.1:p.Lys216Gln
ENST00000637823.1:c.570A>C
ENST00000637888.1:c.198+10205A>C	ENSP00000490546.1:n.198+10205A>C
ENST00000638076.1:c.*348A>C	ENSP00000490373.1:n.*348A>C
ENST00000638144.1:n.388A>C
ENST00000646164.1:c.39-8650A>C
ENST00000249806.9:c.745A>C	ENSP00000249806.5:p.Lys249Gln
ENST00000538696.5:c.841A>C	ENSP00000445770.1:p.Lys281Gln
ENST00000562767.1:c.84-10703A>C	ENSP00000456336.1:n.84-10703A>C
ENST00000564752.1:c.*129A>C	ENSP00000457822.1:n.*129A>C
ENST00000565471.5:c.286A>C	ENSP00000457384.1:p.Lys96Gln
ENST00000566347.5:c.556A>C	ENSP00000457783.1:p.Lys186Gln
ENST00000567060.5:c.*143A>C	ENSP00000454818.1:n.*143A>C
NM_017882.2:c.745A>C	NP_060352.1:p.Lys249Gln
NM_017882.3:c.745A>C MANE Select	NP_060352.1:p.Lys249Gln