Canonical Allele Identifier: CA392972784

Gene: CLN6

Linked Data

• dbSNP Id: rs2093198802
• MyVariant Identifiers: chr15:g.68501979A>C (hg19) ; chr15:g.68209641A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209641A>C , CM000677.2:g.68209641A>C	GRCh38
NC_000015.9:g.68501979A>C , CM000677.1:g.68501979A>C	GRCh37
NC_000015.8:g.66289033A>C	NCBI36
NG_008764.2:g.52571T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.661T>G MANE Select	ENSP00000249806.5:p.Tyr221Asp
ENST00000562767.2:c.84-12013T>G	ENSP00000456336.1:n.84-12013T>G
ENST00000563917.2:n.503T>G
ENST00000565471.6:c.202T>G	ENSP00000457384.1:p.Tyr68Asp
ENST00000635747.1:c.*564T>G	ENSP00000490627.1:n.*564T>G
ENST00000636212.1:c.*331T>G	ENSP00000489851.1:n.*331T>G
ENST00000636674.1:n.1763T>G
ENST00000636964.1:n.2189T>G
ENST00000637054.1:c.198+8895T>G	ENSP00000490807.1:n.198+8895T>G
ENST00000637329.1:c.630T>G
ENST00000637450.1:c.*315T>G	ENSP00000490204.1:n.*315T>G
ENST00000637494.1:c.373T>G	ENSP00000490057.1:p.Tyr125Asp
ENST00000637667.1:c.562T>G	ENSP00000489843.1:p.Tyr188Asp
ENST00000637823.1:c.486T>G
ENST00000637888.1:c.198+8895T>G	ENSP00000490546.1:n.198+8895T>G
ENST00000638076.1:c.*264T>G	ENSP00000490373.1:n.*264T>G
ENST00000638144.1:n.304T>G
ENST00000646164.1:c.38+8895T>G
ENST00000249806.9:c.661T>G	ENSP00000249806.5:p.Tyr221Asp
ENST00000538696.5:c.757T>G	ENSP00000445770.1:p.Tyr253Asp
ENST00000562767.1:c.84-12013T>G	ENSP00000456336.1:n.84-12013T>G
ENST00000563917.1:n.561T>G
ENST00000564752.1:c.*45T>G	ENSP00000457822.1:n.*45T>G
ENST00000565471.5:c.202T>G	ENSP00000457384.1:p.Tyr68Asp
ENST00000566347.5:c.472T>G	ENSP00000457783.1:p.Tyr158Asp
ENST00000567060.5:c.*59T>G	ENSP00000454818.1:n.*59T>G
NM_017882.2:c.661T>G	NP_060352.1:p.Tyr221Asp
XR_931861.1:n.883T>G
NM_017882.3:c.661T>G MANE Select	NP_060352.1:p.Tyr221Asp