Canonical Allele Identifier: CA392973468

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504090G>C (hg19) ; chr15:g.68211752G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211752G>C , CM000677.2:g.68211752G>C	GRCh38
NC_000015.9:g.68504090G>C , CM000677.1:g.68504090G>C	GRCh37
NC_000015.8:g.66291144G>C	NCBI36
NG_008764.2:g.50460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.409C>G MANE Select	ENSP00000249806.5:p.Leu137Val
ENST00000562767.2:c.84-14124C>G	ENSP00000456336.1:n.84-14124C>G
ENST00000563917.2:n.251C>G
ENST00000565471.6:c.84-1993C>G	ENSP00000457384.1:n.84-1993C>G
ENST00000635747.1:c.*312C>G	ENSP00000490627.1:n.*312C>G
ENST00000636212.1:c.298-11C>G	ENSP00000489851.1:n.298-11C>G
ENST00000636314.1:c.183-434C>G	ENSP00000490295.1:n.183-434C>G
ENST00000636674.1:n.1392C>G
ENST00000636964.1:n.1581C>G
ENST00000637054.1:c.198+6784C>G	ENSP00000490807.1:n.198+6784C>G
ENST00000637223.1:c.*201-434C>G	ENSP00000490010.1:n.*201-434C>G
ENST00000637329.1:c.378C>G
ENST00000637450.1:c.*63C>G	ENSP00000490204.1:n.*63C>G
ENST00000637494.1:c.199-434C>G	ENSP00000490057.1:n.199-434C>G
ENST00000637667.1:c.310C>G	ENSP00000489843.1:p.Leu104Val
ENST00000637823.1:c.224-109C>G
ENST00000637888.1:c.198+6784C>G	ENSP00000490546.1:n.198+6784C>G
ENST00000638076.1:c.409C>G	ENSP00000490373.1:p.Leu137Val
ENST00000638144.1:n.130-434C>G
ENST00000646164.1:c.38+6784C>G
ENST00000249806.9:c.409C>G	ENSP00000249806.5:p.Leu137Val
ENST00000538696.5:c.505C>G	ENSP00000445770.1:p.Leu169Val
ENST00000562767.1:c.84-14124C>G	ENSP00000456336.1:n.84-14124C>G
ENST00000563917.1:n.190C>G
ENST00000564752.1:c.409C>G	ENSP00000457822.1:p.Leu137Val
ENST00000565471.5:c.84-1993C>G	ENSP00000457384.1:n.84-1993C>G
ENST00000566347.5:c.298-434C>G	ENSP00000457783.1:n.298-434C>G
ENST00000567060.5:c.298-2032C>G	ENSP00000454818.1:n.298-2032C>G
NM_017882.2:c.409C>G	NP_060352.1:p.Leu137Val
XR_931861.1:n.512C>G
NM_017882.3:c.409C>G MANE Select	NP_060352.1:p.Leu137Val