Canonical Allele Identifier: CA392971827

Gene: CLN6

Linked Data

• dbSNP Id: rs143728911
• MyVariant Identifiers: chr15:g.68500582C>G (hg19) ; chr15:g.68208244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208244C>G , CM000677.2:g.68208244C>G	GRCh38
NC_000015.9:g.68500582C>G , CM000677.1:g.68500582C>G	GRCh37
NC_000015.8:g.66287636C>G	NCBI36
NG_008764.2:g.53968G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.832G>C MANE Select	ENSP00000249806.5:p.Ala278Pro
ENST00000562767.2:c.84-10616G>C	ENSP00000456336.1:n.84-10616G>C
ENST00000565471.6:c.373G>C	ENSP00000457384.1:p.Ala125Pro
ENST00000635747.1:c.*735G>C	ENSP00000490627.1:n.*735G>C
ENST00000636212.1:c.*502G>C	ENSP00000489851.1:n.*502G>C
ENST00000636674.1:n.1934G>C
ENST00000636964.1:n.2360G>C
ENST00000637054.1:c.198+10292G>C	ENSP00000490807.1:n.198+10292G>C
ENST00000637329.1:c.801G>C
ENST00000637450.1:c.*486G>C	ENSP00000490204.1:n.*486G>C
ENST00000637494.1:c.544G>C	ENSP00000490057.1:p.Ala182Pro
ENST00000637667.1:c.733G>C	ENSP00000489843.1:p.Ala245Pro
ENST00000637823.1:c.657G>C
ENST00000637888.1:c.198+10292G>C	ENSP00000490546.1:n.198+10292G>C
ENST00000638076.1:c.*435G>C	ENSP00000490373.1:n.*435G>C
ENST00000638144.1:n.475G>C
ENST00000646164.1:c.39-8563G>C
ENST00000249806.9:c.832G>C	ENSP00000249806.5:p.Ala278Pro
ENST00000538696.5:c.928G>C	ENSP00000445770.1:p.Ala310Pro
ENST00000562767.1:c.84-10616G>C	ENSP00000456336.1:n.84-10616G>C
ENST00000565471.5:c.373G>C	ENSP00000457384.1:p.Ala125Pro
ENST00000566347.5:c.643G>C	ENSP00000457783.1:p.Ala215Pro
ENST00000567060.5:c.*230G>C	ENSP00000454818.1:n.*230G>C
NM_017882.2:c.832G>C	NP_060352.1:p.Ala278Pro
NM_017882.3:c.832G>C MANE Select	NP_060352.1:p.Ala278Pro