Canonical Allele Identifier: CA392972942

Gene: CLN6

Linked Data

• dbSNP Id: rs1320510344
• gnomAD v2: 15-68502051-A-C
• gnomAD v4: 15-68209713-A-C
• MyVariant Identifiers: chr15:g.68502051A>C (hg19) ; chr15:g.68209713A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209713A>C , CM000677.2:g.68209713A>C	GRCh38
NC_000015.9:g.68502051A>C , CM000677.1:g.68502051A>C	GRCh37
NC_000015.8:g.66289105A>C	NCBI36
NG_008764.2:g.52499T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.589T>G MANE Select	ENSP00000249806.5:p.Phe197Val
ENST00000562767.2:c.84-12085T>G	ENSP00000456336.1:n.84-12085T>G
ENST00000563917.2:n.431T>G
ENST00000565471.6:c.130T>G	ENSP00000457384.1:p.Phe44Val
ENST00000635747.1:c.*492T>G	ENSP00000490627.1:n.*492T>G
ENST00000636212.1:c.*259T>G	ENSP00000489851.1:n.*259T>G
ENST00000636314.1:c.285T>G	ENSP00000490295.1:p.Ala95=
ENST00000636674.1:n.1691T>G
ENST00000636964.1:n.2117T>G
ENST00000637054.1:c.198+8823T>G	ENSP00000490807.1:n.198+8823T>G
ENST00000637223.1:c.*303T>G	ENSP00000490010.1:n.*303T>G
ENST00000637329.1:c.558T>G
ENST00000637450.1:c.*243T>G	ENSP00000490204.1:n.*243T>G
ENST00000637494.1:c.301T>G	ENSP00000490057.1:p.Phe101Val
ENST00000637667.1:c.490T>G	ENSP00000489843.1:p.Phe164Val
ENST00000637823.1:c.414T>G
ENST00000637888.1:c.198+8823T>G	ENSP00000490546.1:n.198+8823T>G
ENST00000638076.1:c.*192T>G	ENSP00000490373.1:n.*192T>G
ENST00000638144.1:n.232T>G
ENST00000646164.1:c.38+8823T>G
ENST00000249806.9:c.589T>G	ENSP00000249806.5:p.Phe197Val
ENST00000538696.5:c.685T>G	ENSP00000445770.1:p.Phe229Val
ENST00000562767.1:c.84-12085T>G	ENSP00000456336.1:n.84-12085T>G
ENST00000563917.1:n.489T>G
ENST00000564752.1:c.615T>G	ENSP00000457822.1:p.Ala205=
ENST00000565471.5:c.130T>G	ENSP00000457384.1:p.Phe44Val
ENST00000566347.5:c.400T>G	ENSP00000457783.1:p.Phe134Val
ENST00000567060.5:c.305T>G	ENSP00000454818.1:p.Leu102Arg
NM_017882.2:c.589T>G	NP_060352.1:p.Phe197Val
XR_931861.1:n.811T>G
NM_017882.3:c.589T>G MANE Select	NP_060352.1:p.Phe197Val