Canonical Allele Identifier: CA392971750

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500561C>G (hg19) ; chr15:g.68208223C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208223C>G , CM000677.2:g.68208223C>G	GRCh38
NC_000015.9:g.68500561C>G , CM000677.1:g.68500561C>G	GRCh37
NC_000015.8:g.66287615C>G	NCBI36
NG_008764.2:g.53989G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.853G>C MANE Select	ENSP00000249806.5:p.Val285Leu
ENST00000562767.2:c.84-10595G>C	ENSP00000456336.1:n.84-10595G>C
ENST00000565471.6:c.394G>C	ENSP00000457384.1:p.Val132Leu
ENST00000635747.1:c.*756G>C	ENSP00000490627.1:n.*756G>C
ENST00000636212.1:c.*523G>C	ENSP00000489851.1:n.*523G>C
ENST00000636674.1:n.1955G>C
ENST00000636964.1:n.2381G>C
ENST00000637054.1:c.198+10313G>C	ENSP00000490807.1:n.198+10313G>C
ENST00000637329.1:c.822G>C
ENST00000637450.1:c.*507G>C	ENSP00000490204.1:n.*507G>C
ENST00000637494.1:c.565G>C	ENSP00000490057.1:p.Val189Leu
ENST00000637667.1:c.754G>C
ENST00000637823.1:c.678G>C
ENST00000637888.1:c.198+10313G>C	ENSP00000490546.1:n.198+10313G>C
ENST00000638076.1:c.*456G>C	ENSP00000490373.1:n.*456G>C
ENST00000638144.1:n.496G>C
ENST00000646164.1:c.39-8542G>C
ENST00000249806.9:c.853G>C	ENSP00000249806.5:p.Val285Leu
ENST00000538696.5:c.949G>C	ENSP00000445770.1:p.Val317Leu
ENST00000562767.1:c.84-10595G>C	ENSP00000456336.1:n.84-10595G>C
ENST00000565471.5:c.394G>C	ENSP00000457384.1:p.Val132Leu
ENST00000566347.5:c.664G>C	ENSP00000457783.1:p.Val222Leu
ENST00000567060.5:c.*251G>C	ENSP00000454818.1:n.*251G>C
NM_017882.2:c.853G>C	NP_060352.1:p.Val285Leu
NM_017882.3:c.853G>C MANE Select	NP_060352.1:p.Val285Leu