Canonical Allele Identifier: CA392972915

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502040A>G (hg19) ; chr15:g.68209702A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209702A>G , CM000677.2:g.68209702A>G	GRCh38
NC_000015.9:g.68502040A>G , CM000677.1:g.68502040A>G	GRCh37
NC_000015.8:g.66289094A>G	NCBI36
NG_008764.2:g.52510T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.600T>C MANE Select	ENSP00000249806.5:p.Ser200=
ENST00000562767.2:c.84-12074T>C	ENSP00000456336.1:n.84-12074T>C
ENST00000563917.2:n.442T>C
ENST00000565471.6:c.141T>C	ENSP00000457384.1:p.Ser47=
ENST00000635747.1:c.*503T>C	ENSP00000490627.1:n.*503T>C
ENST00000636212.1:c.*270T>C	ENSP00000489851.1:n.*270T>C
ENST00000636314.1:c.296T>C	ENSP00000490295.1:p.Leu99Pro
ENST00000636674.1:n.1702T>C
ENST00000636964.1:n.2128T>C
ENST00000637054.1:c.198+8834T>C	ENSP00000490807.1:n.198+8834T>C
ENST00000637329.1:c.569T>C
ENST00000637450.1:c.*254T>C	ENSP00000490204.1:n.*254T>C
ENST00000637494.1:c.312T>C	ENSP00000490057.1:p.Ser104=
ENST00000637667.1:c.501T>C	ENSP00000489843.1:p.Ser167=
ENST00000637823.1:c.425T>C
ENST00000637888.1:c.198+8834T>C	ENSP00000490546.1:n.198+8834T>C
ENST00000638076.1:c.*203T>C	ENSP00000490373.1:n.*203T>C
ENST00000638144.1:n.243T>C
ENST00000646164.1:c.38+8834T>C
ENST00000249806.9:c.600T>C	ENSP00000249806.5:p.Ser200=
ENST00000538696.5:c.696T>C	ENSP00000445770.1:p.Ser232=
ENST00000562767.1:c.84-12074T>C	ENSP00000456336.1:n.84-12074T>C
ENST00000563917.1:n.500T>C
ENST00000564752.1:c.626T>C	ENSP00000457822.1:p.Leu209Pro
ENST00000565471.5:c.141T>C	ENSP00000457384.1:p.Ser47=
ENST00000566347.5:c.411T>C	ENSP00000457783.1:p.Ser137=
ENST00000567060.5:c.316T>C	ENSP00000454818.1:p.Ter106Gln
NM_017882.2:c.600T>C	NP_060352.1:p.Ser200=
XR_931861.1:n.822T>C
NM_017882.3:c.600T>C MANE Select	NP_060352.1:p.Ser200=