Canonical Allele Identifier: CA392973573

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504138T>G (hg19) ; chr15:g.68211800T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211800T>G , CM000677.2:g.68211800T>G	GRCh38
NC_000015.9:g.68504138T>G , CM000677.1:g.68504138T>G	GRCh37
NC_000015.8:g.66291192T>G	NCBI36
NG_008764.2:g.50412A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.361A>C MANE Select	ENSP00000249806.5:p.Ile121Leu
ENST00000562767.2:c.84-14172A>C	ENSP00000456336.1:n.84-14172A>C
ENST00000563917.2:n.203A>C
ENST00000565471.6:c.84-2041A>C	ENSP00000457384.1:n.84-2041A>C
ENST00000635747.1:c.*264A>C	ENSP00000490627.1:n.*264A>C
ENST00000636212.1:c.298-59A>C	ENSP00000489851.1:n.298-59A>C
ENST00000636314.1:c.183-482A>C	ENSP00000490295.1:n.183-482A>C
ENST00000636674.1:n.1344A>C
ENST00000636964.1:n.1533A>C
ENST00000637054.1:c.198+6736A>C	ENSP00000490807.1:n.198+6736A>C
ENST00000637223.1:c.*201-482A>C	ENSP00000490010.1:n.*201-482A>C
ENST00000637329.1:c.330A>C
ENST00000637450.1:c.*15A>C	ENSP00000490204.1:n.*15A>C
ENST00000637494.1:c.199-482A>C	ENSP00000490057.1:n.199-482A>C
ENST00000637667.1:c.262A>C	ENSP00000489843.1:p.Ile88Leu
ENST00000637823.1:c.224-157A>C
ENST00000637888.1:c.198+6736A>C	ENSP00000490546.1:n.198+6736A>C
ENST00000638076.1:c.361A>C	ENSP00000490373.1:p.Ile121Leu
ENST00000638144.1:n.130-482A>C
ENST00000646164.1:c.38+6736A>C
ENST00000249806.9:c.361A>C	ENSP00000249806.5:p.Ile121Leu
ENST00000538696.5:c.457A>C	ENSP00000445770.1:p.Ile153Leu
ENST00000562767.1:c.84-14172A>C	ENSP00000456336.1:n.84-14172A>C
ENST00000563917.1:n.142A>C
ENST00000564752.1:c.361A>C	ENSP00000457822.1:p.Ile121Leu
ENST00000565471.5:c.84-2041A>C	ENSP00000457384.1:n.84-2041A>C
ENST00000566347.5:c.298-482A>C	ENSP00000457783.1:n.298-482A>C
ENST00000567060.5:c.298-2080A>C	ENSP00000454818.1:n.298-2080A>C
NM_017882.2:c.361A>C	NP_060352.1:p.Ile121Leu
XR_931861.1:n.464A>C
NM_017882.3:c.361A>C MANE Select	NP_060352.1:p.Ile121Leu