Canonical Allele Identifier: CA392971848

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208250-A-C
• MyVariant Identifiers: chr15:g.68500588A>C (hg19) ; chr15:g.68208250A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208250A>C , CM000677.2:g.68208250A>C	GRCh38
NC_000015.9:g.68500588A>C , CM000677.1:g.68500588A>C	GRCh37
NC_000015.8:g.66287642A>C	NCBI36
NG_008764.2:g.53962T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.826T>G MANE Select	ENSP00000249806.5:p.Trp276Gly
ENST00000562767.2:c.84-10622T>G	ENSP00000456336.1:n.84-10622T>G
ENST00000565471.6:c.367T>G	ENSP00000457384.1:p.Trp123Gly
ENST00000635747.1:c.*729T>G	ENSP00000490627.1:n.*729T>G
ENST00000636212.1:c.*496T>G	ENSP00000489851.1:n.*496T>G
ENST00000636674.1:n.1928T>G
ENST00000636964.1:n.2354T>G
ENST00000637054.1:c.198+10286T>G	ENSP00000490807.1:n.198+10286T>G
ENST00000637329.1:c.795T>G
ENST00000637450.1:c.*480T>G	ENSP00000490204.1:n.*480T>G
ENST00000637494.1:c.538T>G	ENSP00000490057.1:p.Trp180Gly
ENST00000637667.1:c.727T>G	ENSP00000489843.1:p.Trp243Gly
ENST00000637823.1:c.651T>G
ENST00000637888.1:c.198+10286T>G	ENSP00000490546.1:n.198+10286T>G
ENST00000638076.1:c.*429T>G	ENSP00000490373.1:n.*429T>G
ENST00000638144.1:n.469T>G
ENST00000646164.1:c.39-8569T>G
ENST00000249806.9:c.826T>G	ENSP00000249806.5:p.Trp276Gly
ENST00000538696.5:c.922T>G	ENSP00000445770.1:p.Trp308Gly
ENST00000562767.1:c.84-10622T>G	ENSP00000456336.1:n.84-10622T>G
ENST00000565471.5:c.367T>G	ENSP00000457384.1:p.Trp123Gly
ENST00000566347.5:c.637T>G	ENSP00000457783.1:p.Trp213Gly
ENST00000567060.5:c.*224T>G	ENSP00000454818.1:n.*224T>G
NM_017882.2:c.826T>G	NP_060352.1:p.Trp276Gly
NM_017882.3:c.826T>G MANE Select	NP_060352.1:p.Trp276Gly