Canonical Allele Identifier: CA392973124

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1606659
• ClinVar RCV Id: RCV002139445
• dbSNP Id: rs2141138731
• MyVariant Identifiers: chr15:g.68503615C>G (hg19) ; chr15:g.68211277C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211277C>G , CM000677.2:g.68211277C>G	GRCh38
NC_000015.9:g.68503615C>G , CM000677.1:g.68503615C>G	GRCh37
NC_000015.8:g.66290669C>G	NCBI36
NG_008764.2:g.50935G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.528G>C MANE Select	ENSP00000249806.5:p.Leu176=
ENST00000562767.2:c.84-13649G>C	ENSP00000456336.1:n.84-13649G>C
ENST00000563917.2:n.370G>C
ENST00000565471.6:c.84-1518G>C	ENSP00000457384.1:n.84-1518G>C
ENST00000635747.1:c.*431G>C	ENSP00000490627.1:n.*431G>C
ENST00000636212.1:c.*198G>C	ENSP00000489851.1:n.*198G>C
ENST00000636314.1:c.224G>C	ENSP00000490295.1:p.Trp75Ser
ENST00000636674.1:n.1630G>C
ENST00000636964.1:n.2056G>C
ENST00000637054.1:c.198+7259G>C	ENSP00000490807.1:n.198+7259G>C
ENST00000637223.1:c.*242G>C	ENSP00000490010.1:n.*242G>C
ENST00000637329.1:c.497G>C
ENST00000637450.1:c.*182G>C	ENSP00000490204.1:n.*182G>C
ENST00000637494.1:c.240G>C	ENSP00000490057.1:p.Leu80=
ENST00000637667.1:c.429G>C	ENSP00000489843.1:p.Leu143=
ENST00000637823.1:c.353G>C
ENST00000637888.1:c.198+7259G>C	ENSP00000490546.1:n.198+7259G>C
ENST00000638076.1:c.*131G>C	ENSP00000490373.1:n.*131G>C
ENST00000638144.1:n.171G>C
ENST00000646164.1:c.38+7259G>C
ENST00000249806.9:c.528G>C	ENSP00000249806.5:p.Leu176=
ENST00000538696.5:c.624G>C	ENSP00000445770.1:p.Leu208=
ENST00000562767.1:c.84-13649G>C	ENSP00000456336.1:n.84-13649G>C
ENST00000563917.1:n.428G>C
ENST00000564752.1:c.554G>C	ENSP00000457822.1:p.Trp185Ser
ENST00000565471.5:c.84-1518G>C	ENSP00000457384.1:n.84-1518G>C
ENST00000566347.5:c.339G>C	ENSP00000457783.1:p.Leu113=
ENST00000567060.5:c.298-1557G>C	ENSP00000454818.1:n.298-1557G>C
NM_017882.2:c.528G>C	NP_060352.1:p.Leu176=
XR_931861.1:n.750G>C
NM_017882.3:c.528G>C MANE Select	NP_060352.1:p.Leu176=