Canonical Allele Identifier: CA392972908

Gene: CLN6

Linked Data

• dbSNP Id: rs2141137254
• gnomAD v3: 15-68209699-T-C
• gnomAD v4: 15-68209699-T-C
• MyVariant Identifiers: chr15:g.68502037T>C (hg19) ; chr15:g.68209699T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209699T>C , CM000677.2:g.68209699T>C	GRCh38
NC_000015.9:g.68502037T>C , CM000677.1:g.68502037T>C	GRCh37
NC_000015.8:g.66289091T>C	NCBI36
NG_008764.2:g.52513A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.603A>G MANE Select	ENSP00000249806.5:p.Lys201=
ENST00000562767.2:c.84-12071A>G	ENSP00000456336.1:n.84-12071A>G
ENST00000563917.2:n.445A>G
ENST00000565471.6:c.144A>G	ENSP00000457384.1:p.Lys48=
ENST00000635747.1:c.*506A>G	ENSP00000490627.1:n.*506A>G
ENST00000636212.1:c.*273A>G	ENSP00000489851.1:n.*273A>G
ENST00000636314.1:c.299A>G	ENSP00000490295.1:p.Lys100Arg
ENST00000636674.1:n.1705A>G
ENST00000636964.1:n.2131A>G
ENST00000637054.1:c.198+8837A>G	ENSP00000490807.1:n.198+8837A>G
ENST00000637329.1:c.572A>G
ENST00000637450.1:c.*257A>G	ENSP00000490204.1:n.*257A>G
ENST00000637494.1:c.315A>G	ENSP00000490057.1:p.Lys105=
ENST00000637667.1:c.504A>G	ENSP00000489843.1:p.Lys168=
ENST00000637823.1:c.428A>G
ENST00000637888.1:c.198+8837A>G	ENSP00000490546.1:n.198+8837A>G
ENST00000638076.1:c.*206A>G	ENSP00000490373.1:n.*206A>G
ENST00000638144.1:n.246A>G
ENST00000646164.1:c.38+8837A>G
ENST00000249806.9:c.603A>G	ENSP00000249806.5:p.Lys201=
ENST00000538696.5:c.699A>G	ENSP00000445770.1:p.Lys233=
ENST00000562767.1:c.84-12071A>G	ENSP00000456336.1:n.84-12071A>G
ENST00000563917.1:n.503A>G
ENST00000564752.1:c.629A>G	ENSP00000457822.1:p.Lys210Arg
ENST00000565471.5:c.144A>G	ENSP00000457384.1:p.Lys48=
ENST00000566347.5:c.414A>G	ENSP00000457783.1:p.Lys138=
ENST00000567060.5:c.*1A>G	ENSP00000454818.1:n.*1A>G
NM_017882.2:c.603A>G	NP_060352.1:p.Lys201=
XR_931861.1:n.825A>G
NM_017882.3:c.603A>G MANE Select	NP_060352.1:p.Lys201=