Canonical Allele Identifier: CA392974321

Gene: CLN6

Linked Data

• gnomAD v4: 15-68214296-C-G
• MyVariant Identifiers: chr15:g.68506634C>G (hg19) ; chr15:g.68214296C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214296C>G , CM000677.2:g.68214296C>G	GRCh38
NC_000015.9:g.68506634C>G , CM000677.1:g.68506634C>G	GRCh37
NC_000015.8:g.66293688C>G	NCBI36
NG_008764.2:g.47916G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.291G>C MANE Select	ENSP00000249806.5:p.Leu97Phe
ENST00000562767.2:c.83+15206G>C	ENSP00000456336.1:n.83+15206G>C
ENST00000563917.2:n.133G>C
ENST00000565471.6:c.84-4537G>C	ENSP00000457384.1:n.84-4537G>C
ENST00000635747.1:c.*194G>C	ENSP00000490627.1:n.*194G>C
ENST00000635754.1:n.1313G>C
ENST00000636020.1:n.423G>C
ENST00000636212.1:c.291G>C	ENSP00000489851.1:p.Leu97Phe
ENST00000636314.1:c.176G>C	ENSP00000490295.1:p.Cys59Ser
ENST00000637054.1:c.198+4240G>C	ENSP00000490807.1:n.198+4240G>C
ENST00000637223.1:c.*194G>C	ENSP00000490010.1:n.*194G>C
ENST00000637329.1:c.202G>C
ENST00000637450.1:c.176G>C	ENSP00000490204.1:p.Cys59Ser
ENST00000637494.1:c.199-2978G>C	ENSP00000490057.1:n.199-2978G>C
ENST00000637667.1:c.199-2433G>C	ENSP00000489843.1:n.199-2433G>C
ENST00000637823.1:c.217G>C
ENST00000637888.1:c.198+4240G>C	ENSP00000490546.1:n.198+4240G>C
ENST00000638076.1:c.291G>C	ENSP00000490373.1:p.Leu97Phe
ENST00000638144.1:n.123G>C
ENST00000646164.1:c.38+4240G>C
ENST00000249806.9:c.291G>C	ENSP00000249806.5:p.Leu97Phe
ENST00000538696.5:c.387G>C	ENSP00000445770.1:p.Leu129Phe
ENST00000562767.1:c.83+15206G>C	ENSP00000456336.1:n.83+15206G>C
ENST00000563917.1:n.72G>C
ENST00000564752.1:c.291G>C	ENSP00000457822.1:p.Leu97Phe
ENST00000564846.1:n.723G>C
ENST00000565471.5:c.84-4537G>C	ENSP00000457384.1:n.84-4537G>C
ENST00000566347.5:c.291G>C	ENSP00000457783.1:p.Leu97Phe
ENST00000567060.5:c.291G>C	ENSP00000454818.1:p.Leu97Phe
NM_017882.2:c.291G>C	NP_060352.1:p.Leu97Phe
XR_931861.1:n.394G>C
NM_017882.3:c.291G>C MANE Select	NP_060352.1:p.Leu97Phe