Canonical Allele Identifier: CA392973160

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68503628T>C (hg19) ; chr15:g.68211290T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211290T>C , CM000677.2:g.68211290T>C	GRCh38
NC_000015.9:g.68503628T>C , CM000677.1:g.68503628T>C	GRCh37
NC_000015.8:g.66290682T>C	NCBI36
NG_008764.2:g.50922A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.515A>G MANE Select	ENSP00000249806.5:p.Tyr172Cys
ENST00000562767.2:c.84-13662A>G	ENSP00000456336.1:n.84-13662A>G
ENST00000563917.2:n.357A>G
ENST00000565471.6:c.84-1531A>G	ENSP00000457384.1:n.84-1531A>G
ENST00000635747.1:c.*418A>G	ENSP00000490627.1:n.*418A>G
ENST00000636212.1:c.*185A>G	ENSP00000489851.1:n.*185A>G
ENST00000636314.1:c.211A>G	ENSP00000490295.1:p.Met71Val
ENST00000636674.1:n.1617A>G
ENST00000636964.1:n.2043A>G
ENST00000637054.1:c.198+7246A>G	ENSP00000490807.1:n.198+7246A>G
ENST00000637223.1:c.*229A>G	ENSP00000490010.1:n.*229A>G
ENST00000637329.1:c.484A>G
ENST00000637450.1:c.*169A>G	ENSP00000490204.1:n.*169A>G
ENST00000637494.1:c.227A>G	ENSP00000490057.1:p.Tyr76Cys
ENST00000637667.1:c.416A>G	ENSP00000489843.1:p.Tyr139Cys
ENST00000637823.1:c.340A>G
ENST00000637888.1:c.198+7246A>G	ENSP00000490546.1:n.198+7246A>G
ENST00000638076.1:c.*118A>G	ENSP00000490373.1:n.*118A>G
ENST00000638144.1:n.158A>G
ENST00000646164.1:c.38+7246A>G
ENST00000249806.9:c.515A>G	ENSP00000249806.5:p.Tyr172Cys
ENST00000538696.5:c.611A>G	ENSP00000445770.1:p.Tyr204Cys
ENST00000562767.1:c.84-13662A>G	ENSP00000456336.1:n.84-13662A>G
ENST00000563917.1:n.415A>G
ENST00000564752.1:c.541A>G	ENSP00000457822.1:p.Met181Val
ENST00000565471.5:c.84-1531A>G	ENSP00000457384.1:n.84-1531A>G
ENST00000566347.5:c.326A>G	ENSP00000457783.1:p.Tyr109Cys
ENST00000567060.5:c.298-1570A>G	ENSP00000454818.1:n.298-1570A>G
NM_017882.2:c.515A>G	NP_060352.1:p.Tyr172Cys
XR_931861.1:n.737A>G
NM_017882.3:c.515A>G MANE Select	NP_060352.1:p.Tyr172Cys