Canonical Allele Identifier: CA490912713

Gene: CLN6

Linked Data

• dbSNP Id: rs1339874751
• gnomAD v2: 15-68504061-C-A
• gnomAD v4: 15-68211723-C-A
• MyVariant Identifiers: chr15:g.68504061C>A (hg19) ; chr15:g.68211723C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211723C>A , CM000677.2:g.68211723C>A	GRCh38
NC_000015.9:g.68504061C>A , CM000677.1:g.68504061C>A	GRCh37
NC_000015.8:g.66291115C>A	NCBI36
NG_008764.2:g.50489G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.438G>T MANE Select	ENSP00000249806.5:p.Leu146=
ENST00000562767.2:c.84-14095G>T	ENSP00000456336.1:n.84-14095G>T
ENST00000563917.2:n.280G>T
ENST00000565471.6:c.84-1964G>T	ENSP00000457384.1:n.84-1964G>T
ENST00000635747.1:c.*341G>T	ENSP00000490627.1:n.*341G>T
ENST00000636212.1:c.316G>T	ENSP00000489851.1:p.Val106Phe
ENST00000636314.1:c.183-405G>T	ENSP00000490295.1:n.183-405G>T
ENST00000636674.1:n.1421G>T
ENST00000636964.1:n.1610G>T
ENST00000637054.1:c.198+6813G>T	ENSP00000490807.1:n.198+6813G>T
ENST00000637223.1:c.*201-405G>T	ENSP00000490010.1:n.*201-405G>T
ENST00000637329.1:c.407G>T
ENST00000637450.1:c.*92G>T	ENSP00000490204.1:n.*92G>T
ENST00000637494.1:c.199-405G>T	ENSP00000490057.1:n.199-405G>T
ENST00000637667.1:c.339G>T	ENSP00000489843.1:p.Leu113=
ENST00000637823.1:c.224-80G>T
ENST00000637888.1:c.198+6813G>T	ENSP00000490546.1:n.198+6813G>T
ENST00000638076.1:c.438G>T	ENSP00000490373.1:p.Leu146=
ENST00000638144.1:n.130-405G>T
ENST00000646164.1:c.38+6813G>T
ENST00000249806.9:c.438G>T	ENSP00000249806.5:p.Leu146=
ENST00000538696.5:c.534G>T	ENSP00000445770.1:p.Leu178=
ENST00000562767.1:c.84-14095G>T	ENSP00000456336.1:n.84-14095G>T
ENST00000563917.1:n.219G>T
ENST00000564752.1:c.438G>T	ENSP00000457822.1:p.Leu146=
ENST00000565471.5:c.84-1964G>T	ENSP00000457384.1:n.84-1964G>T
ENST00000566347.5:c.298-405G>T	ENSP00000457783.1:n.298-405G>T
ENST00000567060.5:c.298-2003G>T	ENSP00000454818.1:n.298-2003G>T
NM_017882.2:c.438G>T	NP_060352.1:p.Leu146=
XR_931861.1:n.541G>T
NM_017882.3:c.438G>T MANE Select	NP_060352.1:p.Leu146=