Canonical Allele Identifier: CA491099942

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1565372
• ClinVar RCV Id: RCV002205274
• dbSNP Id: rs2141135982
• MyVariant Identifiers: chr15:g.68500610C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208272C>T , CM000677.2:g.68208272C>T	GRCh38
NC_000015.9:g.68500610C>T , CM000677.1:g.68500610C>T	GRCh37
NC_000015.8:g.66287664C>T	NCBI36
NG_008764.2:g.53940G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.804G>A MANE Select	ENSP00000249806.5:p.Leu268=
ENST00000562767.2:c.84-10644G>A	ENSP00000456336.1:n.84-10644G>A
ENST00000565471.6:c.345G>A	ENSP00000457384.1:p.Leu115=
ENST00000635747.1:c.*707G>A	ENSP00000490627.1:n.*707G>A
ENST00000636212.1:c.*474G>A	ENSP00000489851.1:n.*474G>A
ENST00000636674.1:n.1906G>A
ENST00000636964.1:n.2332G>A
ENST00000637054.1:c.198+10264G>A	ENSP00000490807.1:n.198+10264G>A
ENST00000637329.1:c.773G>A
ENST00000637450.1:c.*458G>A	ENSP00000490204.1:n.*458G>A
ENST00000637494.1:c.516G>A	ENSP00000490057.1:p.Leu172=
ENST00000637667.1:c.705G>A	ENSP00000489843.1:p.Leu235=
ENST00000637823.1:c.629G>A
ENST00000637888.1:c.198+10264G>A	ENSP00000490546.1:n.198+10264G>A
ENST00000638076.1:c.*407G>A	ENSP00000490373.1:n.*407G>A
ENST00000638144.1:n.447G>A
ENST00000646164.1:c.39-8591G>A
ENST00000249806.9:c.804G>A	ENSP00000249806.5:p.Leu268=
ENST00000538696.5:c.900G>A	ENSP00000445770.1:p.Leu300=
ENST00000562767.1:c.84-10644G>A	ENSP00000456336.1:n.84-10644G>A
ENST00000565471.5:c.345G>A	ENSP00000457384.1:p.Leu115=
ENST00000566347.5:c.615G>A	ENSP00000457783.1:p.Leu205=
ENST00000567060.5:c.*202G>A	ENSP00000454818.1:n.*202G>A
NM_017882.2:c.804G>A	NP_060352.1:p.Leu268=
NM_017882.3:c.804G>A MANE Select	NP_060352.1:p.Leu268=