Canonical Allele Identifier: CA392971748

Gene: CLN6

Linked Data

• dbSNP Id: rs2093193595
• MyVariant Identifiers: chr15:g.68500561C>A (hg19) ; chr15:g.68208223C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.853G>T MANE Select	ENSP00000249806.5:p.Val285Phe
ENST00000562767.2:c.84-10595G>T	ENSP00000456336.1:n.84-10595G>T
ENST00000565471.6:c.394G>T	ENSP00000457384.1:p.Val132Phe
ENST00000635747.1:c.*756G>T	ENSP00000490627.1:n.*756G>T
ENST00000636212.1:c.*523G>T	ENSP00000489851.1:n.*523G>T
ENST00000636674.1:n.1955G>T
ENST00000636964.1:n.2381G>T
ENST00000637054.1:c.198+10313G>T	ENSP00000490807.1:n.198+10313G>T
ENST00000637329.1:c.822G>T
ENST00000637450.1:c.*507G>T	ENSP00000490204.1:n.*507G>T
ENST00000637494.1:c.565G>T	ENSP00000490057.1:p.Val189Phe
ENST00000637667.1:c.754G>T
ENST00000637823.1:c.678G>T
ENST00000637888.1:c.198+10313G>T	ENSP00000490546.1:n.198+10313G>T
ENST00000638076.1:c.*456G>T	ENSP00000490373.1:n.*456G>T
ENST00000638144.1:n.496G>T
ENST00000646164.1:c.39-8542G>T
ENST00000249806.9:c.853G>T	ENSP00000249806.5:p.Val285Phe
ENST00000538696.5:c.949G>T	ENSP00000445770.1:p.Val317Phe
ENST00000562767.1:c.84-10595G>T	ENSP00000456336.1:n.84-10595G>T
ENST00000565471.5:c.394G>T	ENSP00000457384.1:p.Val132Phe
ENST00000566347.5:c.664G>T	ENSP00000457783.1:p.Val222Phe
ENST00000567060.5:c.*251G>T	ENSP00000454818.1:n.*251G>T
NM_017882.2:c.853G>T	NP_060352.1:p.Val285Phe
NM_017882.3:c.853G>T MANE Select	NP_060352.1:p.Val285Phe