Canonical Allele Identifier: CA491099837

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1614363
• ClinVar RCV Id: RCV002075910
• dbSNP Id: rs2141135937
• MyVariant Identifiers: chr15:g.68500562A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208224A>G , CM000677.2:g.68208224A>G	GRCh38
NC_000015.9:g.68500562A>G , CM000677.1:g.68500562A>G	GRCh37
NC_000015.8:g.66287616A>G	NCBI36
NG_008764.2:g.53988T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.852T>C MANE Select	ENSP00000249806.5:p.Pro284=
ENST00000562767.2:c.84-10596T>C	ENSP00000456336.1:n.84-10596T>C
ENST00000565471.6:c.393T>C	ENSP00000457384.1:p.Pro131=
ENST00000635747.1:c.*755T>C	ENSP00000490627.1:n.*755T>C
ENST00000636212.1:c.*522T>C	ENSP00000489851.1:n.*522T>C
ENST00000636674.1:n.1954T>C
ENST00000636964.1:n.2380T>C
ENST00000637054.1:c.198+10312T>C	ENSP00000490807.1:n.198+10312T>C
ENST00000637329.1:c.821T>C
ENST00000637450.1:c.*506T>C	ENSP00000490204.1:n.*506T>C
ENST00000637494.1:c.564T>C	ENSP00000490057.1:p.Pro188=
ENST00000637667.1:c.753T>C	ENSP00000489843.1:p.Pro251=
ENST00000637823.1:c.677T>C
ENST00000637888.1:c.198+10312T>C	ENSP00000490546.1:n.198+10312T>C
ENST00000638076.1:c.*455T>C	ENSP00000490373.1:n.*455T>C
ENST00000638144.1:n.495T>C
ENST00000646164.1:c.39-8543T>C
ENST00000249806.9:c.852T>C	ENSP00000249806.5:p.Pro284=
ENST00000538696.5:c.948T>C	ENSP00000445770.1:p.Pro316=
ENST00000562767.1:c.84-10596T>C	ENSP00000456336.1:n.84-10596T>C
ENST00000565471.5:c.393T>C	ENSP00000457384.1:p.Pro131=
ENST00000566347.5:c.663T>C	ENSP00000457783.1:p.Pro221=
ENST00000567060.5:c.*250T>C	ENSP00000454818.1:n.*250T>C
NM_017882.2:c.852T>C	NP_060352.1:p.Pro284=
NM_017882.3:c.852T>C MANE Select	NP_060352.1:p.Pro284=