Canonical Allele Identifier: CA392971871

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1064769
• ClinVar RCV Id: RCV001374905
• dbSNP Id: rs2141135967
• gnomAD v4: 15-68208258-A-G
• MyVariant Identifiers: chr15:g.68500596A>G (hg19) ; chr15:g.68208258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208258A>G , CM000677.2:g.68208258A>G	GRCh38
NC_000015.9:g.68500596A>G , CM000677.1:g.68500596A>G	GRCh37
NC_000015.8:g.66287650A>G	NCBI36
NG_008764.2:g.53954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.818T>C MANE Select	ENSP00000249806.5:p.Val273Ala
ENST00000562767.2:c.84-10630T>C	ENSP00000456336.1:n.84-10630T>C
ENST00000565471.6:c.359T>C	ENSP00000457384.1:p.Val120Ala
ENST00000635747.1:c.*721T>C	ENSP00000490627.1:n.*721T>C
ENST00000636212.1:c.*488T>C	ENSP00000489851.1:n.*488T>C
ENST00000636674.1:n.1920T>C
ENST00000636964.1:n.2346T>C
ENST00000637054.1:c.198+10278T>C	ENSP00000490807.1:n.198+10278T>C
ENST00000637329.1:c.787T>C
ENST00000637450.1:c.*472T>C	ENSP00000490204.1:n.*472T>C
ENST00000637494.1:c.530T>C	ENSP00000490057.1:p.Val177Ala
ENST00000637667.1:c.719T>C	ENSP00000489843.1:p.Val240Ala
ENST00000637823.1:c.643T>C
ENST00000637888.1:c.198+10278T>C	ENSP00000490546.1:n.198+10278T>C
ENST00000638076.1:c.*421T>C	ENSP00000490373.1:n.*421T>C
ENST00000638144.1:n.461T>C
ENST00000646164.1:c.39-8577T>C
ENST00000249806.9:c.818T>C	ENSP00000249806.5:p.Val273Ala
ENST00000538696.5:c.914T>C	ENSP00000445770.1:p.Val305Ala
ENST00000562767.1:c.84-10630T>C	ENSP00000456336.1:n.84-10630T>C
ENST00000565471.5:c.359T>C	ENSP00000457384.1:p.Val120Ala
ENST00000566347.5:c.629T>C	ENSP00000457783.1:p.Val210Ala
ENST00000567060.5:c.*216T>C	ENSP00000454818.1:n.*216T>C
NM_017882.2:c.818T>C	NP_060352.1:p.Val273Ala
NM_017882.3:c.818T>C MANE Select	NP_060352.1:p.Val273Ala