Canonical Allele Identifier: CA392972943

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502051A>G (hg19) ; chr15:g.68209713A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.589T>C MANE Select	ENSP00000249806.5:p.Phe197Leu
ENST00000562767.2:c.84-12085T>C	ENSP00000456336.1:n.84-12085T>C
ENST00000563917.2:n.431T>C
ENST00000565471.6:c.130T>C	ENSP00000457384.1:p.Phe44Leu
ENST00000635747.1:c.*492T>C	ENSP00000490627.1:n.*492T>C
ENST00000636212.1:c.*259T>C	ENSP00000489851.1:n.*259T>C
ENST00000636314.1:c.285T>C	ENSP00000490295.1:p.Ala95=
ENST00000636674.1:n.1691T>C
ENST00000636964.1:n.2117T>C
ENST00000637054.1:c.198+8823T>C	ENSP00000490807.1:n.198+8823T>C
ENST00000637223.1:c.*303T>C	ENSP00000490010.1:n.*303T>C
ENST00000637329.1:c.558T>C
ENST00000637450.1:c.*243T>C	ENSP00000490204.1:n.*243T>C
ENST00000637494.1:c.301T>C	ENSP00000490057.1:p.Phe101Leu
ENST00000637667.1:c.490T>C	ENSP00000489843.1:p.Phe164Leu
ENST00000637823.1:c.414T>C
ENST00000637888.1:c.198+8823T>C	ENSP00000490546.1:n.198+8823T>C
ENST00000638076.1:c.*192T>C	ENSP00000490373.1:n.*192T>C
ENST00000638144.1:n.232T>C
ENST00000646164.1:c.38+8823T>C
ENST00000249806.9:c.589T>C	ENSP00000249806.5:p.Phe197Leu
ENST00000538696.5:c.685T>C	ENSP00000445770.1:p.Phe229Leu
ENST00000562767.1:c.84-12085T>C	ENSP00000456336.1:n.84-12085T>C
ENST00000563917.1:n.489T>C
ENST00000564752.1:c.615T>C	ENSP00000457822.1:p.Ala205=
ENST00000565471.5:c.130T>C	ENSP00000457384.1:p.Phe44Leu
ENST00000566347.5:c.400T>C	ENSP00000457783.1:p.Phe134Leu
ENST00000567060.5:c.305T>C	ENSP00000454818.1:p.Leu102Pro
NM_017882.2:c.589T>C	NP_060352.1:p.Phe197Leu
XR_931861.1:n.811T>C
NM_017882.3:c.589T>C MANE Select	NP_060352.1:p.Phe197Leu