Canonical Allele Identifier: CA501025

Gene: CLN6

Linked Data

• ClinVar Variation Id: 522639
• ClinVar RCV Id: RCV000625778 ; RCV001091348 ; RCV001868157 ; RCV002248826
• dbSNP Id: rs919850756
• gnomAD v4: 15-68211685-G-A
• MyVariant Identifiers: chr15:g.68504023G>A (hg19) ; chr15:g.68211685G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211685G>A , CM000677.2:g.68211685G>A	GRCh38
NC_000015.9:g.68504023G>A , CM000677.1:g.68504023G>A	GRCh37
NC_000015.8:g.66291077G>A	NCBI36
NG_008764.2:g.50527C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.476C>T MANE Select	ENSP00000249806.5:p.Pro159Leu
ENST00000562767.2:c.84-14057C>T	ENSP00000456336.1:n.84-14057C>T
ENST00000563917.2:n.318C>T
ENST00000565471.6:c.84-1926C>T	ENSP00000457384.1:n.84-1926C>T
ENST00000635747.1:c.*379C>T	ENSP00000490627.1:n.*379C>T
ENST00000636212.1:c.*27C>T	ENSP00000489851.1:n.*27C>T
ENST00000636314.1:c.183-367C>T	ENSP00000490295.1:n.183-367C>T
ENST00000636674.1:n.1459C>T
ENST00000636964.1:n.1648C>T
ENST00000637054.1:c.198+6851C>T	ENSP00000490807.1:n.198+6851C>T
ENST00000637223.1:c.*201-367C>T	ENSP00000490010.1:n.*201-367C>T
ENST00000637329.1:c.445C>T
ENST00000637450.1:c.*130C>T	ENSP00000490204.1:n.*130C>T
ENST00000637494.1:c.199-367C>T	ENSP00000490057.1:n.199-367C>T
ENST00000637667.1:c.377C>T	ENSP00000489843.1:p.Pro126Leu
ENST00000637823.1:c.224-42C>T
ENST00000637888.1:c.198+6851C>T	ENSP00000490546.1:n.198+6851C>T
ENST00000638076.1:c.476C>T	ENSP00000490373.1:p.Pro159Leu
ENST00000638144.1:n.130-367C>T
ENST00000646164.1:c.38+6851C>T
ENST00000249806.9:c.476C>T	ENSP00000249806.5:p.Pro159Leu
ENST00000538696.5:c.572C>T	ENSP00000445770.1:p.Pro191Leu
ENST00000562767.1:c.84-14057C>T	ENSP00000456336.1:n.84-14057C>T
ENST00000563917.1:n.257C>T
ENST00000564752.1:c.476C>T	ENSP00000457822.1:p.Pro159Leu
ENST00000565471.5:c.84-1926C>T	ENSP00000457384.1:n.84-1926C>T
ENST00000566347.5:c.298-367C>T	ENSP00000457783.1:n.298-367C>T
ENST00000567060.5:c.298-1965C>T	ENSP00000454818.1:n.298-1965C>T
NM_017882.2:c.476C>T	NP_060352.1:p.Pro159Leu
XR_931861.1:n.579C>T
NM_017882.3:c.476C>T MANE Select	NP_060352.1:p.Pro159Leu