Canonical Allele Identifier: CA392972777

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501975C>G (hg19) ; chr15:g.68209637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209637C>G , CM000677.2:g.68209637C>G	GRCh38
NC_000015.9:g.68501975C>G , CM000677.1:g.68501975C>G	GRCh37
NC_000015.8:g.66289029C>G	NCBI36
NG_008764.2:g.52575G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.665G>C MANE Select	ENSP00000249806.5:p.Trp222Ser
ENST00000562767.2:c.84-12009G>C	ENSP00000456336.1:n.84-12009G>C
ENST00000563917.2:n.507G>C
ENST00000565471.6:c.206G>C	ENSP00000457384.1:p.Trp69Ser
ENST00000635747.1:c.*568G>C	ENSP00000490627.1:n.*568G>C
ENST00000636212.1:c.*335G>C	ENSP00000489851.1:n.*335G>C
ENST00000636674.1:n.1767G>C
ENST00000636964.1:n.2193G>C
ENST00000637054.1:c.198+8899G>C	ENSP00000490807.1:n.198+8899G>C
ENST00000637329.1:c.634G>C
ENST00000637450.1:c.*319G>C	ENSP00000490204.1:n.*319G>C
ENST00000637494.1:c.377G>C	ENSP00000490057.1:p.Trp126Ser
ENST00000637667.1:c.566G>C	ENSP00000489843.1:p.Trp189Ser
ENST00000637823.1:c.490G>C
ENST00000637888.1:c.198+8899G>C	ENSP00000490546.1:n.198+8899G>C
ENST00000638076.1:c.*268G>C	ENSP00000490373.1:n.*268G>C
ENST00000638144.1:n.308G>C
ENST00000646164.1:c.38+8899G>C
ENST00000249806.9:c.665G>C	ENSP00000249806.5:p.Trp222Ser
ENST00000538696.5:c.761G>C	ENSP00000445770.1:p.Trp254Ser
ENST00000562767.1:c.84-12009G>C	ENSP00000456336.1:n.84-12009G>C
ENST00000563917.1:n.565G>C
ENST00000564752.1:c.*49G>C	ENSP00000457822.1:n.*49G>C
ENST00000565471.5:c.206G>C	ENSP00000457384.1:p.Trp69Ser
ENST00000566347.5:c.476G>C	ENSP00000457783.1:p.Trp159Ser
ENST00000567060.5:c.*63G>C	ENSP00000454818.1:n.*63G>C
NM_017882.2:c.665G>C	NP_060352.1:p.Trp222Ser
XR_931861.1:n.887G>C
NM_017882.3:c.665G>C MANE Select	NP_060352.1:p.Trp222Ser