Canonical Allele Identifier: CA392975531

Gene: CLN6

Linked Data

• gnomAD v4: 15-68218554-A-C
• MyVariant Identifiers: chr15:g.68510892A>C (hg19) ; chr15:g.68218554A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218554A>C , CM000677.2:g.68218554A>C	GRCh38
NC_000015.9:g.68510892A>C , CM000677.1:g.68510892A>C	GRCh37
NC_000015.8:g.66297946A>C	NCBI36
NG_008764.2:g.43658T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.180T>G MANE Select	ENSP00000249806.5:p.Phe60Leu
ENST00000562767.2:c.83+10948T>G	ENSP00000456336.1:n.83+10948T>G
ENST00000563917.2:n.41-4166T>G
ENST00000565471.6:c.84-8795T>G	ENSP00000457384.1:n.84-8795T>G
ENST00000569336.2:n.89T>G
ENST00000635747.1:c.*83T>G	ENSP00000490627.1:n.*83T>G
ENST00000636020.1:n.312T>G
ENST00000636212.1:c.180T>G	ENSP00000489851.1:p.Phe60Leu
ENST00000636314.1:c.84-4166T>G	ENSP00000490295.1:n.84-4166T>G
ENST00000637054.1:c.180T>G	ENSP00000490807.1:p.Phe60Leu
ENST00000637223.1:c.*83T>G	ENSP00000490010.1:n.*83T>G
ENST00000637329.1:c.91T>G
ENST00000637450.1:c.84-4166T>G	ENSP00000490204.1:n.84-4166T>G
ENST00000637494.1:c.180T>G	ENSP00000490057.1:p.Phe60Leu
ENST00000637667.1:c.180T>G	ENSP00000489843.1:p.Phe60Leu
ENST00000637823.1:c.106T>G
ENST00000637888.1:c.180T>G	ENSP00000490546.1:p.Phe60Leu
ENST00000638076.1:c.180T>G	ENSP00000490373.1:p.Phe60Leu
ENST00000638144.1:n.31-4166T>G
ENST00000646164.1:c.20T>G
ENST00000249806.9:c.180T>G	ENSP00000249806.5:p.Phe60Leu
ENST00000538696.5:c.276T>G	ENSP00000445770.1:p.Phe92Leu
ENST00000562767.1:c.83+10948T>G	ENSP00000456336.1:n.83+10948T>G
ENST00000564752.1:c.180T>G	ENSP00000457822.1:p.Phe60Leu
ENST00000564846.1:n.612T>G
ENST00000565471.5:c.84-8795T>G	ENSP00000457384.1:n.84-8795T>G
ENST00000566347.5:c.180T>G	ENSP00000457783.1:p.Phe60Leu
ENST00000567060.5:c.180T>G	ENSP00000454818.1:p.Phe60Leu
ENST00000569336.1:n.266T>G
NM_017882.2:c.180T>G	NP_060352.1:p.Phe60Leu
XR_931861.1:n.283T>G
NM_017882.3:c.180T>G MANE Select	NP_060352.1:p.Phe60Leu