Canonical Allele Identifier: CA7630447

Gene: CLN6

Linked Data

• ClinVar Variation Id: 374774
• ClinVar RCV Id: RCV000416280 ; RCV000675067 ; RCV001865306 ; RCV002248651
• dbSNP Id: rs750937323
• ExAC: 15:68500516 A / G
• gnomAD v2: 15-68500516-A-G
• gnomAD v3: 15-68208178-A-G
• gnomAD v4: 15-68208178-A-G
• MyVariant Identifiers: chr15:g.68500516A>G (hg19) ; chr15:g.68500516_68500542delinsGGGGCTCAGGGACGTAGATGACACCCG (hg19) ; chr15:g.68208178A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208178A>G , CM000677.2:g.68208178A>G	GRCh38
NC_000015.9:g.68500516A>G , CM000677.1:g.68500516A>G	GRCh37
NC_000015.8:g.66287570A>G	NCBI36
NG_008764.2:g.54034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.898T>C MANE Select	ENSP00000249806.5:p.Trp300Arg
ENST00000562767.2:c.84-10550T>C	ENSP00000456336.1:n.84-10550T>C
ENST00000565471.6:c.439T>C	ENSP00000457384.1:p.Trp147Arg
ENST00000635747.1:c.*801T>C	ENSP00000490627.1:n.*801T>C
ENST00000636212.1:c.*568T>C	ENSP00000489851.1:n.*568T>C
ENST00000636674.1:n.2000T>C
ENST00000636964.1:n.2426T>C
ENST00000637054.1:c.198+10358T>C	ENSP00000490807.1:n.198+10358T>C
ENST00000637329.1:c.867T>C
ENST00000637494.1:c.610T>C	ENSP00000490057.1:p.Trp204Arg
ENST00000637888.1:c.198+10358T>C	ENSP00000490546.1:n.198+10358T>C
ENST00000638076.1:c.*501T>C	ENSP00000490373.1:n.*501T>C
ENST00000638144.1:n.541T>C
ENST00000646164.1:c.39-8497T>C
ENST00000249806.9:c.898T>C	ENSP00000249806.5:p.Trp300Arg
ENST00000538696.5:c.994T>C	ENSP00000445770.1:p.Trp332Arg
ENST00000562767.1:c.84-10550T>C	ENSP00000456336.1:n.84-10550T>C
ENST00000565471.5:c.439T>C	ENSP00000457384.1:p.Trp147Arg
ENST00000566347.5:c.709T>C	ENSP00000457783.1:p.Trp237Arg
ENST00000567060.5:c.*296T>C	ENSP00000454818.1:n.*296T>C
NM_017882.2:c.898T>C	NP_060352.1:p.Trp300Arg
NM_017882.3:c.898T>C MANE Select	NP_060352.1:p.Trp300Arg