Canonical Allele Identifier: CA392971582

Gene: CLN6

Linked Data

• COSMIC: COSM4056481
• MyVariant Identifiers: chr15:g.68500514C>A (hg19) ; chr15:g.68208176C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208176C>A , CM000677.2:g.68208176C>A	GRCh38
NC_000015.9:g.68500514C>A , CM000677.1:g.68500514C>A	GRCh37
NC_000015.8:g.66287568C>A	NCBI36
NG_008764.2:g.54036G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.900G>T MANE Select	ENSP00000249806.5:p.Trp300Cys
ENST00000562767.2:c.84-10548G>T	ENSP00000456336.1:n.84-10548G>T
ENST00000565471.6:c.441G>T	ENSP00000457384.1:p.Trp147Cys
ENST00000635747.1:c.*803G>T	ENSP00000490627.1:n.*803G>T
ENST00000636212.1:c.*570G>T	ENSP00000489851.1:n.*570G>T
ENST00000636674.1:n.2002G>T
ENST00000636964.1:n.2428G>T
ENST00000637054.1:c.198+10360G>T	ENSP00000490807.1:n.198+10360G>T
ENST00000637329.1:c.869G>T
ENST00000637494.1:c.612G>T	ENSP00000490057.1:p.Trp204Cys
ENST00000637888.1:c.198+10360G>T	ENSP00000490546.1:n.198+10360G>T
ENST00000638076.1:c.*503G>T	ENSP00000490373.1:n.*503G>T
ENST00000638144.1:n.543G>T
ENST00000646164.1:c.39-8495G>T
ENST00000249806.9:c.900G>T	ENSP00000249806.5:p.Trp300Cys
ENST00000538696.5:c.996G>T	ENSP00000445770.1:p.Trp332Cys
ENST00000562767.1:c.84-10548G>T	ENSP00000456336.1:n.84-10548G>T
ENST00000565471.5:c.441G>T	ENSP00000457384.1:p.Trp147Cys
ENST00000566347.5:c.711G>T	ENSP00000457783.1:p.Trp237Cys
ENST00000567060.5:c.*298G>T	ENSP00000454818.1:n.*298G>T
NM_017882.2:c.900G>T	NP_060352.1:p.Trp300Cys
NM_017882.3:c.900G>T MANE Select	NP_060352.1:p.Trp300Cys