Canonical Allele Identifier: CA491100003

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2902822
• ClinVar RCV Id: RCV003648923
• MyVariant Identifiers: chr15:g.68500658G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208320G>A , CM000677.2:g.68208320G>A	GRCh38
NC_000015.9:g.68500658G>A , CM000677.1:g.68500658G>A	GRCh37
NC_000015.8:g.66287712G>A	NCBI36
NG_008764.2:g.53892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.756C>T MANE Select	ENSP00000249806.5:p.Arg252=
ENST00000562767.2:c.84-10692C>T	ENSP00000456336.1:n.84-10692C>T
ENST00000565471.6:c.297C>T	ENSP00000457384.1:p.Arg99=
ENST00000635747.1:c.*659C>T	ENSP00000490627.1:n.*659C>T
ENST00000636212.1:c.*426C>T	ENSP00000489851.1:n.*426C>T
ENST00000636674.1:n.1858C>T
ENST00000636964.1:n.2284C>T
ENST00000637054.1:c.198+10216C>T	ENSP00000490807.1:n.198+10216C>T
ENST00000637329.1:c.725C>T
ENST00000637450.1:c.*410C>T	ENSP00000490204.1:n.*410C>T
ENST00000637494.1:c.468C>T	ENSP00000490057.1:p.Arg156=
ENST00000637667.1:c.657C>T	ENSP00000489843.1:p.Arg219=
ENST00000637823.1:c.581C>T
ENST00000637888.1:c.198+10216C>T	ENSP00000490546.1:n.198+10216C>T
ENST00000638076.1:c.*359C>T	ENSP00000490373.1:n.*359C>T
ENST00000638144.1:n.399C>T
ENST00000646164.1:c.39-8639C>T
ENST00000249806.9:c.756C>T	ENSP00000249806.5:p.Arg252=
ENST00000538696.5:c.852C>T	ENSP00000445770.1:p.Arg284=
ENST00000562767.1:c.84-10692C>T	ENSP00000456336.1:n.84-10692C>T
ENST00000565471.5:c.297C>T	ENSP00000457384.1:p.Arg99=
ENST00000566347.5:c.567C>T	ENSP00000457783.1:p.Arg189=
ENST00000567060.5:c.*154C>T	ENSP00000454818.1:n.*154C>T
NM_017882.2:c.756C>T	NP_060352.1:p.Arg252=
NM_017882.3:c.756C>T MANE Select	NP_060352.1:p.Arg252=