Canonical Allele Identifier: CA392971462

Gene: CLN6

Linked Data

• ClinVar Variation Id: 3065115
• ClinVar RCV Id: RCV003990192
• MyVariant Identifiers: chr15:g.68500480A>G (hg19) ; chr15:g.68208142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208142A>G , CM000677.2:g.68208142A>G	GRCh38
NC_000015.9:g.68500480A>G , CM000677.1:g.68500480A>G	GRCh37
NC_000015.8:g.66287534A>G	NCBI36
NG_008764.2:g.54070T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.934T>C MANE Select	ENSP00000249806.5:p.Ter312Arg
ENST00000562767.2:c.84-10514T>C	ENSP00000456336.1:n.84-10514T>C
ENST00000565471.6:c.475T>C	ENSP00000457384.1:p.Ter159Arg
ENST00000635747.1:c.*837T>C	ENSP00000490627.1:n.*837T>C
ENST00000636964.1:n.2462T>C
ENST00000637054.1:c.198+10394T>C	ENSP00000490807.1:n.198+10394T>C
ENST00000637329.1:c.903T>C
ENST00000637494.1:c.646T>C	ENSP00000490057.1:p.Ter216Arg
ENST00000637888.1:c.198+10394T>C	ENSP00000490546.1:n.198+10394T>C
ENST00000638076.1:c.*537T>C	ENSP00000490373.1:n.*537T>C
ENST00000646164.1:c.39-8461T>C
ENST00000249806.9:c.934T>C	ENSP00000249806.5:p.Ter312Arg
ENST00000538696.5:c.1030T>C	ENSP00000445770.1:p.Ter344Arg
ENST00000562767.1:c.84-10514T>C	ENSP00000456336.1:n.84-10514T>C
ENST00000565471.5:c.475T>C	ENSP00000457384.1:p.Ter159Arg
ENST00000566347.5:c.745T>C	ENSP00000457783.1:p.Ter249Arg
ENST00000567060.5:c.*332T>C	ENSP00000454818.1:n.*332T>C
NM_017882.2:c.934T>C	NP_060352.1:p.Ter312Arg
NM_017882.3:c.934T>C MANE Select	NP_060352.1:p.Ter312Arg