Canonical Allele Identifier: CA491099854

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2112860
• ClinVar RCV Id: RCV003027024
• MyVariant Identifiers: chr15:g.68500574C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208236C>G , CM000677.2:g.68208236C>G	GRCh38
NC_000015.9:g.68500574C>G , CM000677.1:g.68500574C>G	GRCh37
NC_000015.8:g.66287628C>G	NCBI36
NG_008764.2:g.53976G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.840G>C MANE Select	ENSP00000249806.5:p.Leu280=
ENST00000562767.2:c.84-10608G>C	ENSP00000456336.1:n.84-10608G>C
ENST00000565471.6:c.381G>C	ENSP00000457384.1:p.Leu127=
ENST00000635747.1:c.*743G>C	ENSP00000490627.1:n.*743G>C
ENST00000636212.1:c.*510G>C	ENSP00000489851.1:n.*510G>C
ENST00000636674.1:n.1942G>C
ENST00000636964.1:n.2368G>C
ENST00000637054.1:c.198+10300G>C	ENSP00000490807.1:n.198+10300G>C
ENST00000637329.1:c.809G>C
ENST00000637450.1:c.*494G>C	ENSP00000490204.1:n.*494G>C
ENST00000637494.1:c.552G>C	ENSP00000490057.1:p.Leu184=
ENST00000637667.1:c.741G>C	ENSP00000489843.1:p.Leu247=
ENST00000637823.1:c.665G>C
ENST00000637888.1:c.198+10300G>C	ENSP00000490546.1:n.198+10300G>C
ENST00000638076.1:c.*443G>C	ENSP00000490373.1:n.*443G>C
ENST00000638144.1:n.483G>C
ENST00000646164.1:c.39-8555G>C
ENST00000249806.9:c.840G>C	ENSP00000249806.5:p.Leu280=
ENST00000538696.5:c.936G>C	ENSP00000445770.1:p.Leu312=
ENST00000562767.1:c.84-10608G>C	ENSP00000456336.1:n.84-10608G>C
ENST00000565471.5:c.381G>C	ENSP00000457384.1:p.Leu127=
ENST00000566347.5:c.651G>C	ENSP00000457783.1:p.Leu217=
ENST00000567060.5:c.*238G>C	ENSP00000454818.1:n.*238G>C
NM_017882.2:c.840G>C	NP_060352.1:p.Leu280=
NM_017882.3:c.840G>C MANE Select	NP_060352.1:p.Leu280=