Canonical Allele Identifier: CA491099979

Gene: CLN6

Linked Data

• ClinVar Variation Id: 512240
• ClinVar RCV Id: RCV000602188 ; RCV001411832
• dbSNP Id: rs1555438231
• gnomAD v4: 15-68208302-G-A
• MyVariant Identifiers: chr15:g.68500640G>A (hg19) ; chr15:g.68208302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208302G>A , CM000677.2:g.68208302G>A	GRCh38
NC_000015.9:g.68500640G>A , CM000677.1:g.68500640G>A	GRCh37
NC_000015.8:g.66287694G>A	NCBI36
NG_008764.2:g.53910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.774C>T MANE Select	ENSP00000249806.5:p.Asn258=
ENST00000562767.2:c.84-10674C>T	ENSP00000456336.1:n.84-10674C>T
ENST00000565471.6:c.315C>T	ENSP00000457384.1:p.Asn105=
ENST00000635747.1:c.*677C>T	ENSP00000490627.1:n.*677C>T
ENST00000636212.1:c.*444C>T	ENSP00000489851.1:n.*444C>T
ENST00000636674.1:n.1876C>T
ENST00000636964.1:n.2302C>T
ENST00000637054.1:c.198+10234C>T	ENSP00000490807.1:n.198+10234C>T
ENST00000637329.1:c.743C>T
ENST00000637450.1:c.*428C>T	ENSP00000490204.1:n.*428C>T
ENST00000637494.1:c.486C>T	ENSP00000490057.1:p.Asn162=
ENST00000637667.1:c.675C>T	ENSP00000489843.1:p.Asn225=
ENST00000637823.1:c.599C>T
ENST00000637888.1:c.198+10234C>T	ENSP00000490546.1:n.198+10234C>T
ENST00000638076.1:c.*377C>T	ENSP00000490373.1:n.*377C>T
ENST00000638144.1:n.417C>T
ENST00000646164.1:c.39-8621C>T
ENST00000249806.9:c.774C>T	ENSP00000249806.5:p.Asn258=
ENST00000538696.5:c.870C>T	ENSP00000445770.1:p.Asn290=
ENST00000562767.1:c.84-10674C>T	ENSP00000456336.1:n.84-10674C>T
ENST00000565471.5:c.315C>T	ENSP00000457384.1:p.Asn105=
ENST00000566347.5:c.585C>T	ENSP00000457783.1:p.Asn195=
ENST00000567060.5:c.*172C>T	ENSP00000454818.1:n.*172C>T
NM_017882.2:c.774C>T	NP_060352.1:p.Asn258=
NM_017882.3:c.774C>T MANE Select	NP_060352.1:p.Asn258=