Canonical Allele Identifier: CA392971638

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500529G>T (hg19) ; chr15:g.68208191G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208191G>T , CM000677.2:g.68208191G>T	GRCh38
NC_000015.9:g.68500529G>T , CM000677.1:g.68500529G>T	GRCh37
NC_000015.8:g.66287583G>T	NCBI36
NG_008764.2:g.54021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.885C>A MANE Select	ENSP00000249806.5:p.Tyr295Ter
ENST00000562767.2:c.84-10563C>A	ENSP00000456336.1:n.84-10563C>A
ENST00000565471.6:c.426C>A	ENSP00000457384.1:p.Tyr142Ter
ENST00000635747.1:c.*788C>A	ENSP00000490627.1:n.*788C>A
ENST00000636212.1:c.*555C>A	ENSP00000489851.1:n.*555C>A
ENST00000636674.1:n.1987C>A
ENST00000636964.1:n.2413C>A
ENST00000637054.1:c.198+10345C>A	ENSP00000490807.1:n.198+10345C>A
ENST00000637329.1:c.854C>A
ENST00000637450.1:c.*539C>A	ENSP00000490204.1:n.*539C>A
ENST00000637494.1:c.597C>A	ENSP00000490057.1:p.Tyr199Ter
ENST00000637823.1:c.710C>A
ENST00000637888.1:c.198+10345C>A	ENSP00000490546.1:n.198+10345C>A
ENST00000638076.1:c.*488C>A	ENSP00000490373.1:n.*488C>A
ENST00000638144.1:n.528C>A
ENST00000646164.1:c.39-8510C>A
ENST00000249806.9:c.885C>A	ENSP00000249806.5:p.Tyr295Ter
ENST00000538696.5:c.981C>A	ENSP00000445770.1:p.Tyr327Ter
ENST00000562767.1:c.84-10563C>A	ENSP00000456336.1:n.84-10563C>A
ENST00000565471.5:c.426C>A	ENSP00000457384.1:p.Tyr142Ter
ENST00000566347.5:c.696C>A	ENSP00000457783.1:p.Tyr232Ter
ENST00000567060.5:c.*283C>A	ENSP00000454818.1:n.*283C>A
NM_017882.2:c.885C>A	NP_060352.1:p.Tyr295Ter
NM_017882.3:c.885C>A MANE Select	NP_060352.1:p.Tyr295Ter