Canonical Allele Identifier: CA392973588

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211808-A-G
• MyVariant Identifiers: chr15:g.68504146A>G (hg19) ; chr15:g.68211808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211808A>G , CM000677.2:g.68211808A>G	GRCh38
NC_000015.9:g.68504146A>G , CM000677.1:g.68504146A>G	GRCh37
NC_000015.8:g.66291200A>G	NCBI36
NG_008764.2:g.50404T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.353T>C MANE Select	ENSP00000249806.5:p.Ile118Thr
ENST00000562767.2:c.84-14180T>C	ENSP00000456336.1:n.84-14180T>C
ENST00000563917.2:n.195T>C
ENST00000565471.6:c.84-2049T>C	ENSP00000457384.1:n.84-2049T>C
ENST00000635747.1:c.*256T>C	ENSP00000490627.1:n.*256T>C
ENST00000636212.1:c.298-67T>C	ENSP00000489851.1:n.298-67T>C
ENST00000636314.1:c.183-490T>C	ENSP00000490295.1:n.183-490T>C
ENST00000636674.1:n.1336T>C
ENST00000636964.1:n.1525T>C
ENST00000637054.1:c.198+6728T>C	ENSP00000490807.1:n.198+6728T>C
ENST00000637223.1:c.*201-490T>C	ENSP00000490010.1:n.*201-490T>C
ENST00000637329.1:c.322T>C
ENST00000637450.1:c.*7T>C	ENSP00000490204.1:n.*7T>C
ENST00000637494.1:c.199-490T>C	ENSP00000490057.1:n.199-490T>C
ENST00000637667.1:c.254T>C	ENSP00000489843.1:p.Ile85Thr
ENST00000637823.1:c.224-165T>C
ENST00000637888.1:c.198+6728T>C	ENSP00000490546.1:n.198+6728T>C
ENST00000638076.1:c.353T>C	ENSP00000490373.1:p.Ile118Thr
ENST00000638144.1:n.130-490T>C
ENST00000646164.1:c.38+6728T>C
ENST00000249806.9:c.353T>C	ENSP00000249806.5:p.Ile118Thr
ENST00000538696.5:c.449T>C	ENSP00000445770.1:p.Ile150Thr
ENST00000562767.1:c.84-14180T>C	ENSP00000456336.1:n.84-14180T>C
ENST00000563917.1:n.134T>C
ENST00000564752.1:c.353T>C	ENSP00000457822.1:p.Ile118Thr
ENST00000565471.5:c.84-2049T>C	ENSP00000457384.1:n.84-2049T>C
ENST00000566347.5:c.298-490T>C	ENSP00000457783.1:n.298-490T>C
ENST00000567060.5:c.298-2088T>C	ENSP00000454818.1:n.298-2088T>C
NM_017882.2:c.353T>C	NP_060352.1:p.Ile118Thr
XR_931861.1:n.456T>C
NM_017882.3:c.353T>C MANE Select	NP_060352.1:p.Ile118Thr