Canonical Allele Identifier: CA7630460

Gene: CLN6

Linked Data

• ClinVar Variation Id: 415533
• ClinVar RCV Id: RCV002313223
• dbSNP Id: rs148949069
• ExAC: 15:68500574 C / T
• gnomAD v2: 15-68500574-C-T
• gnomAD v3: 15-68208236-C-T
• gnomAD v4: 15-68208236-C-T
• MyVariant Identifiers: chr15:g.68500574C>T (hg19) ; chr15:g.68208236C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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