Canonical Allele Identifier: CA392972370

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208403-C-T
• MyVariant Identifiers: chr15:g.68500741C>T (hg19) ; chr15:g.68208403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208403C>T , CM000677.2:g.68208403C>T	GRCh38
NC_000015.9:g.68500741C>T , CM000677.1:g.68500741C>T	GRCh37
NC_000015.8:g.66287795C>T	NCBI36
NG_008764.2:g.53809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.673G>A MANE Select	ENSP00000249806.5:p.Val225Ile
ENST00000562767.2:c.84-10775G>A	ENSP00000456336.1:n.84-10775G>A
ENST00000563917.2:n.515G>A
ENST00000565471.6:c.214G>A	ENSP00000457384.1:p.Val72Ile
ENST00000635747.1:c.*576G>A	ENSP00000490627.1:n.*576G>A
ENST00000636212.1:c.*343G>A	ENSP00000489851.1:n.*343G>A
ENST00000636674.1:n.1775G>A
ENST00000636964.1:n.2201G>A
ENST00000637054.1:c.198+10133G>A	ENSP00000490807.1:n.198+10133G>A
ENST00000637329.1:c.642G>A
ENST00000637450.1:c.*327G>A	ENSP00000490204.1:n.*327G>A
ENST00000637494.1:c.385G>A	ENSP00000490057.1:p.Val129Ile
ENST00000637667.1:c.574G>A	ENSP00000489843.1:p.Val192Ile
ENST00000637823.1:c.498G>A
ENST00000637888.1:c.198+10133G>A	ENSP00000490546.1:n.198+10133G>A
ENST00000638076.1:c.*276G>A	ENSP00000490373.1:n.*276G>A
ENST00000638144.1:n.316G>A
ENST00000646164.1:c.39-8722G>A
ENST00000249806.9:c.673G>A	ENSP00000249806.5:p.Val225Ile
ENST00000538696.5:c.769G>A	ENSP00000445770.1:p.Val257Ile
ENST00000562767.1:c.84-10775G>A	ENSP00000456336.1:n.84-10775G>A
ENST00000564752.1:c.*57G>A	ENSP00000457822.1:n.*57G>A
ENST00000565471.5:c.214G>A	ENSP00000457384.1:p.Val72Ile
ENST00000566347.5:c.484G>A	ENSP00000457783.1:p.Val162Ile
ENST00000567060.5:c.*71G>A	ENSP00000454818.1:n.*71G>A
NM_017882.2:c.673G>A	NP_060352.1:p.Val225Ile
XR_931861.1:n.895G>A
NM_017882.3:c.673G>A MANE Select	NP_060352.1:p.Val225Ile