Canonical Allele Identifier: CA392972986

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502067C>G (hg19) ; chr15:g.68209729C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209729C>G , CM000677.2:g.68209729C>G	GRCh38
NC_000015.9:g.68502067C>G , CM000677.1:g.68502067C>G	GRCh37
NC_000015.8:g.66289121C>G	NCBI36
NG_008764.2:g.52483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.573G>C MANE Select	ENSP00000249806.5:p.Met191Ile
ENST00000562767.2:c.84-12101G>C	ENSP00000456336.1:n.84-12101G>C
ENST00000563917.2:n.415G>C
ENST00000565471.6:c.114G>C	ENSP00000457384.1:p.Met38Ile
ENST00000635747.1:c.*476G>C	ENSP00000490627.1:n.*476G>C
ENST00000636212.1:c.*243G>C	ENSP00000489851.1:n.*243G>C
ENST00000636314.1:c.269G>C	ENSP00000490295.1:p.Cys90Ser
ENST00000636674.1:n.1675G>C
ENST00000636964.1:n.2101G>C
ENST00000637054.1:c.198+8807G>C	ENSP00000490807.1:n.198+8807G>C
ENST00000637223.1:c.*287G>C	ENSP00000490010.1:n.*287G>C
ENST00000637329.1:c.542G>C
ENST00000637450.1:c.*227G>C	ENSP00000490204.1:n.*227G>C
ENST00000637494.1:c.285G>C	ENSP00000490057.1:p.Met95Ile
ENST00000637667.1:c.474G>C	ENSP00000489843.1:p.Met158Ile
ENST00000637823.1:c.398G>C
ENST00000637888.1:c.198+8807G>C	ENSP00000490546.1:n.198+8807G>C
ENST00000638076.1:c.*176G>C	ENSP00000490373.1:n.*176G>C
ENST00000638144.1:n.216G>C
ENST00000646164.1:c.38+8807G>C
ENST00000249806.9:c.573G>C	ENSP00000249806.5:p.Met191Ile
ENST00000538696.5:c.669G>C	ENSP00000445770.1:p.Met223Ile
ENST00000562767.1:c.84-12101G>C	ENSP00000456336.1:n.84-12101G>C
ENST00000563917.1:n.473G>C
ENST00000564752.1:c.599G>C	ENSP00000457822.1:p.Cys200Ser
ENST00000565471.5:c.114G>C	ENSP00000457384.1:p.Met38Ile
ENST00000566347.5:c.384G>C	ENSP00000457783.1:p.Met128Ile
ENST00000567060.5:c.298-9G>C	ENSP00000454818.1:n.298-9G>C
NM_017882.2:c.573G>C	NP_060352.1:p.Met191Ile
XR_931861.1:n.795G>C
NM_017882.3:c.573G>C MANE Select	NP_060352.1:p.Met191Ile