Canonical Allele Identifier: CA392973572

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211800-T-C
• MyVariant Identifiers: chr15:g.68504138T>C (hg19) ; chr15:g.68211800T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.361A>G MANE Select	ENSP00000249806.5:p.Ile121Val
ENST00000562767.2:c.84-14172A>G	ENSP00000456336.1:n.84-14172A>G
ENST00000563917.2:n.203A>G
ENST00000565471.6:c.84-2041A>G	ENSP00000457384.1:n.84-2041A>G
ENST00000635747.1:c.*264A>G	ENSP00000490627.1:n.*264A>G
ENST00000636212.1:c.298-59A>G	ENSP00000489851.1:n.298-59A>G
ENST00000636314.1:c.183-482A>G	ENSP00000490295.1:n.183-482A>G
ENST00000636674.1:n.1344A>G
ENST00000636964.1:n.1533A>G
ENST00000637054.1:c.198+6736A>G	ENSP00000490807.1:n.198+6736A>G
ENST00000637223.1:c.*201-482A>G	ENSP00000490010.1:n.*201-482A>G
ENST00000637329.1:c.330A>G
ENST00000637450.1:c.*15A>G	ENSP00000490204.1:n.*15A>G
ENST00000637494.1:c.199-482A>G	ENSP00000490057.1:n.199-482A>G
ENST00000637667.1:c.262A>G	ENSP00000489843.1:p.Ile88Val
ENST00000637823.1:c.224-157A>G
ENST00000637888.1:c.198+6736A>G	ENSP00000490546.1:n.198+6736A>G
ENST00000638076.1:c.361A>G	ENSP00000490373.1:p.Ile121Val
ENST00000638144.1:n.130-482A>G
ENST00000646164.1:c.38+6736A>G
ENST00000249806.9:c.361A>G	ENSP00000249806.5:p.Ile121Val
ENST00000538696.5:c.457A>G	ENSP00000445770.1:p.Ile153Val
ENST00000562767.1:c.84-14172A>G	ENSP00000456336.1:n.84-14172A>G
ENST00000563917.1:n.142A>G
ENST00000564752.1:c.361A>G	ENSP00000457822.1:p.Ile121Val
ENST00000565471.5:c.84-2041A>G	ENSP00000457384.1:n.84-2041A>G
ENST00000566347.5:c.298-482A>G	ENSP00000457783.1:n.298-482A>G
ENST00000567060.5:c.298-2080A>G	ENSP00000454818.1:n.298-2080A>G
NM_017882.2:c.361A>G	NP_060352.1:p.Ile121Val
XR_931861.1:n.464A>G
NM_017882.3:c.361A>G MANE Select	NP_060352.1:p.Ile121Val